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Select item 102866431.

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier

Pediatr Dermatol. 2022 May-Jun; 39(3): 434–437. Published online 2022 Mar 8. doi: 10.1111/pde.14969

PMCID:: PMC10286643

Article PDF–1.6M

Select item 96882162.

Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family

Shuang Zhang, Fangxia Zhang, Juan Wang, Shangying Yang, Yinghua Ren, Xue Rui, Xiaobo Xia, Xunlun Sheng

Cells. 2022 Nov; 11(22): 3602. Published online 2022 Nov 14. doi: 10.3390/cells11223602

PMCID:: PMC9688216

Article PDF–1.5M

Select item 89229473.

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome

Huajin Li, Yanfeng Huang, Jing Li, Maosong Xie

Mol Genet Genomic Med. 2022 Mar; 10(3): e1860. Published online 2022 Feb 12. doi: 10.1002/mgg3.1860

PMCID:: PMC8922947

Article PDF–906K

Select item 81341144.

Dental and Facial Bone Abnormalities in Pyknodysostosis: CT Findings

K.W. Fleming, G. Barest, O. Sakai

AJNR Am J Neuroradiol. 2007 Jan; 28(1): 132–134.

PMCID:: PMC8134114

Article PDF–193K

Select item 81322895.

Heterozygous Recurrent HNF4A variant p.Arg85Trp Causes Fanconi Renotubular Syndrome 4 with Maturity Onset Diabetes of the Young, an Autosomal Dominant Phenocopy of Fanconi Bickel Syndrome with Colobomas

Sarah E. Sheppard, Brett Barrett, Colleen Muraresku, Heather McKnight, Diva D. De Leon, Katherine Lord, Rebecca Ganetzky

Am J Med Genet A. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Am J Med Genet A. 2021 Feb; 185(2): 566–570. Published online 2020 Nov 30. doi: 10.1002/ajmg.a.61978

PMCID:: PMC8132289

Article PDF–293K

Select item 79562826.

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform

Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez, Rafael Navarro, Esther Pomares

Int J Mol Sci. 2021 Mar; 22(5): 2262. Published online 2021 Feb 24. doi: 10.3390/ijms22052262

PMCID:: PMC7956282

Article PDF–1.6M

Select item 78842957.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti

Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 13. Published online 2021 Feb 12. doi: 10.1167/iovs.62.2.13

PMCID:: PMC7884295

Article PDF–1.2M

Select item 78432738.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

Chuan Zhang, Lisha An, Huiqin Xue, Shengju Hao, Yousheng Yan, Qinghua Zhang, Xiaohua Jin, Qian Li, Bingbo Zhou, Xuan Feng, Panpan Ma, Xing Wang, Xue Chen, Cuixia Chen, Zongfu Cao, Xu Ma

J Clin Lab Anal. 2021 Jan; 35(1): e23567. Published online 2020 Sep 9. doi: 10.1002/jcla.23567

PMCID:: PMC7843273

Article PDF–946K

Select item 74347509.

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang

Mol Genet Genomic Med. 2020 Aug; 8(8): e1313. Published online 2020 Jun 15. doi: 10.1002/mgg3.1313

PMCID:: PMC7434750

Article PDF–852K

Select item 707914710.

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

Laura Pölsler, Ulrich A. Schatz, Burkhard Simma, Johannes Zschocke, Sabine Rudnik‐Schöneborn

Am J Med Genet A. 2020 Apr; 182(4): 730–734. Published online 2020 Jan 8. doi: 10.1002/ajmg.a.61478

PMCID:: PMC7079147

Article PDF–843K

Select item 669517611.

Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog

Renata Stavinohova, Claudia Hartley, Louise M. Burmeister, Sally L. Ricketts, Louise Pettitt, Roser Tetas Pont, Rebekkah J. Hitti, Ellen Schofield, James A. C. Oliver, Cathryn S. Mellersh

PLoS One. 2019; 14(8): e0220761. Published online 2019 Aug 15. doi: 10.1371/journal.pone.0220761

PMCID:: PMC6695176

Article PDF–5.1M

Select item 586841312.

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

Laurence H.M. Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh D.N. Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J.H. Tjon-Fo-Sang, Jose Schuil, Caroline C.W. Klaver, Ernie M.H.F. Bongers, Lonneke Haer-Wigman, Nicoline Schalij, Martijn H. Breuning, Gratia M. Fischer, Eyal Banin, Raj S. Ramesar, Anand Swaroop, L. Ingeborgh van den Born, Dror Sharon, Frans P.M. Cremers

Ophthalmology. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Ophthalmology. 2017 Jul; 124(7): 992–1003. Published online 2017 Apr 13. doi: 10.1016/j.ophtha.2017.03.010

PMCID:: PMC5868413

Article PDF–1.3M

Select item 557902013.

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome

So-Hyun Lee, Tai-Seung Nam, Wenting Li, Jung Ha Kim, Woong Yoon, Yoo-Duk Choi, Kun-Hee Kim, Hua Cai, Min Jung Kim, Changsoo Kim, Hyon E. Choy, Nacksung Kim, Kee Oh Chay, Myeong-Kyu Kim, Seok-Yong Choi

Sci Rep. 2017; 7: 10222. Published online 2017 Aug 31. doi: 10.1038/s41598-017-10652-z

PMCID:: PMC5579020

Article PDF–2.7M

Select item 556729114.

Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations

Xiu-Feng Huang, Zhi-Qin Huang, Dan Lin, Ma-Li Dai, Qing-Feng Wang, Zhen-Ji Chen, Zi-Bing Jin, Yuqin Wang

Sci Rep. 2017; 7: 9064. Published online 2017 Aug 22. doi: 10.1038/s41598-017-09276-0

PMCID:: PMC5567291

Article PDF–1.8M

Select item 510800515.

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome

S Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami, H Darvish

Eye (Lond) 2016 Nov; 30(11): 1424–1432. Published online 2016 Jul 15. doi: 10.1038/eye.2016.137

PMCID:: PMC5108005

Article PDF–1.2M

Select item 429494216.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

J Med Genet. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631

PMCID:: PMC4294942

Article PDF–1.3M

Select item 391800117.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype

Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N Kennedy, SallyAnn Lynch, Andrew Green, Sean Ennis

Hum Mutat. Author manuscript; available in PMC 2014 Feb 7.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1417–1426. Published online 2011 Sep 29. doi: 10.1002/humu.21590

PMCID:: PMC3918001

Article PDF–2.2M

Select item 372799218.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek

Orphanet J Rare Dis. 2013; 8: 110. Published online 2013 Jul 24. doi: 10.1186/1750-1172-8-110

PMCID:: PMC3727992

Article PDF–1.7M

Select item 359183919.

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Fatema Zahrani, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

Am J Hum Genet. 2013 Mar 7; 92(3): 387–391. doi: 10.1016/j.ajhg.2013.01.008

PMCID:: PMC3591839

Article PDF–596K

Select item 350195920.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass

J Med Genet. Author manuscript; available in PMC 2012 Nov 20.

Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249

PMCID:: PMC3501959

Article PDF–1.1M

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