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Select item 110157081.

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease

Sini Keskinen, Teija Paakkola, Mirjami Mattila, Marja Hietala, Hannele Koillinen, Jukka Laine, Maria K. Haanpää

Pediatr Dev Pathol. 2024 Mar-Apr; 27(2): 181–186. Published online 2023 Nov 19. doi: 10.1177/10935266231210155

PMCID:: PMC11015708

Abstract Article PDF–911K

Select item 109528332.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant

Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith‐Rae Dias, Krystle Standen, Carey‐Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung‐Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding‐Byth, Bekim Sadikovic, Jason Pinner, Michael F. Buckley, Tony Roscioli

Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3): e32056. Published online 2023 Aug 31. doi: 10.1002/ajmg.c.32056

PMCID:: PMC10952833

Abstract Article PDF–1.9M

Select item 108878093.

The Genetic Basis of the First Patient with Wiedemann–Rautenstrauch Syndrome in the Russian Federation

Valeriia A. Kovalskaia, Anastasiia L. Kungurtseva, Fatima M. Bostanova, Peter A. Vasiliev, Vyacheslav Y. Tabakov, Mariia D. Orlova, Inna S. Povolotskaya, Olga G. Novoselova, Roman A. Bikanov, Mariia A. Akhyamova, Yulia V. Tikhonovich, Anastasiia V. Popovich, Alisa V. Vitebskaya, Elena L. Dadali, Oxana P. Ryzhkova

Genes (Basel) 2024 Feb; 15(2): 180. Published online 2024 Jan 29. doi: 10.3390/genes15020180

PMCID:: PMC10887809

Abstract Article PDF–3.7M

Select item 92229134.

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

Eman A. Rabie, Inas S. M. Sayed, Khalda Amr, Hoda A. Ahmed, Mostafa I. Mostafa, Nehal F. Hassib, Heba El-Sayed, Suher K. Zada, Ghada El-Kamah

Genes (Basel) 2022 Jun; 13(6): 1056. Published online 2022 Jun 13. doi: 10.3390/genes13061056

PMCID:: PMC9222913

Abstract Article PDF–9.1M

Select item 90090515.

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

D. Hettiarachchi, S. M. V. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake

BMC Med Genomics. 2022; 15: 82. Published online 2022 Apr 14. doi: 10.1186/s12920-022-01226-8

PMCID:: PMC9009051

Abstract Article PDF–2.5M

Select item 89131836.

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

Purvi Majethia, Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla

Eur J Med Genet. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Eur J Med Genet. 2021 Sep; 64(9): 104266. Published online 2021 Jun 20. doi: 10.1016/j.ejmg.2021.104266

PMCID:: PMC8913183

Abstract Article PDF–651K

Select item 85918037.

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing

Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang, Liya Ma

BMC Med Genomics. 2021; 14: 270. Published online 2021 Nov 14. doi: 10.1186/s12920-021-01119-2

PMCID:: PMC8591803

Abstract Article PDF–3.6M

Select item 82337708.

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

Ashley Vasko, Theodore G. Drivas, Samantha A. Schrier Vergano

Genes (Basel) 2021 Jun; 12(6): 937. Published online 2021 Jun 19. doi: 10.3390/genes12060937

PMCID:: PMC8233770

Abstract Article PDF–986K

Select item 75495559.

TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations

Chen Wang, Yufei Xu, Yanrong Qing, Ruen Yao, Niu Li, Xiumin Wang, Tingting Yu, Jian Wang

Mol Genet Genomic Med. 2020 Oct; 8(10): e1417. Published online 2020 Aug 10. doi: 10.1002/mgg3.1417

PMCID:: PMC7549555

Abstract Article PDF–2.3M

Select item 715500110.

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

Matthias Baumann, Erin M. Beaver, María Palomares‐Bralo, Fernando Santos‐Simarro, Peter Holzer, Gundula Povysil, Thomas Müller, Taras Valovka, Andreas R. Janecke

Hum Mutat. 2020 Apr; 41(4): 753–758. Published online 2020 Jan 16. doi: 10.1002/humu.23970

PMCID:: PMC7155001

Abstract Article PDF–789K

Select item 697307911.

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

Jaap J. A. J. van der Velden, Michel van Geel, Jans J. Engelhart, Marcel F. Jonkman, Peter M. Steijlen

J Dermatol. 2020 Jan; 47(1): 3–7. Published online 2019 Oct 29. doi: 10.1111/1346-8138.15136

PMCID:: PMC6973079

Abstract Article PDF–780K

Select item 682773712.

Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy

Akshay Narayan, Mariya Moosajee

BMJ Case Rep. 2019; 12(10): e232342. Published online 2019 Oct 23. doi: 10.1136/bcr-2019-232342

PMCID:: PMC6827737

Abstract Article PDF–286K

Select item 629213013.

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report

Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li, Xuejun Li

BMC Med Genet. 2018; 19: 211. Published online 2018 Dec 12. doi: 10.1186/s12881-018-0732-4

PMCID:: PMC6292130

Abstract Article PDF–4.7M

Select item 617318614.

Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28

Lekbir Baala, Smaïl Hadj-Rabia, Dominique Hamel-Teillac, Michelle Hadchouel, Catherine Prost, Suzanne M. Leal, Emmanuel Jacquemin, Abdelaziz Sefiani, Yves de Prost, Gilles Courtois, Arnold Munnich, Stanislas Lyonnet, Pierre Vabres

J Invest Dermatol. Author manuscript; available in PMC 2018 Oct 5.

Published in final edited form as: J Invest Dermatol. 2002 Jul; 119(1): 70–76. doi: 10.1046/j.1523-1747.2002.01809.x

PMCID:: PMC6173186

Abstract Article PDF–972K

Select item 587086815.

SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases

Yuri A. Zarate, Elizabeth Bhoj, Julie Kaylor, Dong Li, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Shubha Phadke, Luis Escobar, Afifa Irani, Hakon Hakonarson, Samantha A. Schrier Vergano

Am J Med Genet A. Author manuscript; available in PMC 2018 Mar 27.

Published in final edited form as: Am J Med Genet A. 2016 Aug; 170(8): 1967–1973. Published online 2016 Jun 5. doi: 10.1002/ajmg.a.37722

PMCID:: PMC5870868

Abstract Article PDF–878K

Select item 549503216.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321

PMCID:: PMC5495032

Abstract Article PDF–1.1M

Select item 541580417.

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

W. Smaili, S. Chafai Elalaoui, S. Meier, M. Zerkaoui, A. Sefiani, K. Heinimann

BMC Med Genet. 2017; 18: 50. Published online 2017 May 3. doi: 10.1186/s12881-017-0413-8

PMCID:: PMC5415804

Abstract Article PDF–3.0M

Select item 506511918.

Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A. Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L. Gallo, Noam Shomron, Ralf Paus, Eli Sprecher

PLoS Genet. 2016 Oct; 12(10): e1006369. Published online 2016 Oct 13. doi: 10.1371/journal.pgen.1006369