PMC Articles for MedGen (Select 351278) - PMC

Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

Case Rep Genet. 2023; 2023: 7974886. Published online 2023 Oct 16. doi: 10.1155/2023/7974886

PMCID:: PMC10593553

Article PDF–1.5M

Select item 105248104.

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias

Mine Koprulu, Rana Muhammad Kamran Shabbir, Sara Mumtaz, Aslıhan Tolun, Sajid Malik

Yale J Biol Med. 2023 Sep; 96(3): 367–382. Published online 2023 Sep 29. doi: 10.59249/RLAU6003

PMCID:: PMC10524810

Article PDF–1.8M

Select item 103827905.

Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)

Jorge Pimentel Campillo, Daneybi Corona Castillo, Marco Nunez, Ana Finke Abbott, Jesús Pichardo

Cureus. 2023 Jun; 15(6): e41119. Published online 2023 Jun 28. doi: 10.7759/cureus.41119

PMCID:: PMC10382790

Article PDF–591K

Select item 100940736.

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee

Mol Genet Genomic Med. 2023 Apr; 11(4): e2127. Published online 2022 Dec 23. doi: 10.1002/mgg3.2127

PMCID:: PMC10094073

Article PDF–2.1M

Select item 100227057.

An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report

Rouzy Alhalak, Mohammed H Al-Haideri, Arif Khan

Cureus. 2023 Feb; 15(2): e35021. Published online 2023 Feb 15. doi: 10.7759/cureus.35021

PMCID:: PMC10022705

Article PDF–310K

Select item 98861398.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler

Front Cell Dev Biol. 2022; 10: 1020609. Published online 2023 Jan 16. doi: 10.3389/fcell.2022.1020609

PMCID:: PMC9886139

Article PDF–2.7M

Select item 98857889.

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients

Nilay Güneş, Esra Usluer, Aylin Yüksel Ülker, Dilek Uludağ Alkaya, Evrim Çifçi Sunamak, Figen Celep Eyüpoğlu, Zehra Oya Uyguner, Beyhan Tüysüz

Turk Arch Pediatr. 2023 Jan; 58(1): 98–104. Published online 2023 Jan 1. doi: 10.5152/TurkArchPediatr.2022.22223

PMCID:: PMC9885788

Article PDF–906K

Select item 965160810.

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease

Mol Genet Genomic Med. 2022 Nov; 10(11): e2067. Published online 2022 Sep 24. doi: 10.1002/mgg3.2067

PMCID:: PMC9651608

Article PDF–1.8M

Select item 960002511.

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report

Dan Huang, Jia Zhao, Fang-Ling Xia, Chao-Chun Zou

Children (Basel) 2022 Oct; 9(10): 1447. Published online 2022 Sep 22. doi: 10.3390/children9101447

PMCID:: PMC9600025

Article PDF–1.3M

Select item 958253612.

Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay

Xuemei Zhao, Bingbing Wu, Huiyao Chen, Ping Zhang, Yanyan Qian, Xiaomin Peng, Xinran Dong, Yaqiong Wang, Gang Li, Chenbin Dong, Huijun Wang

Front Pediatr. 2022; 10: 982361. Published online 2022 Oct 6. doi: 10.3389/fped.2022.982361

PMCID:: PMC9582536

Article PDF–1.3M

Select item 919217113.

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Ayca Kocaaga, Sevgi Yimenicioglu

Glob Med Genet. 2022 Jun; 9(2): 179–181. Published online 2022 Feb 25. doi: 10.1055/s-0042-1743261

PMCID:: PMC9192171

Article PDF–972K

Select item 918466614.

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient

Youfeng Zhou, Ke Xu, Weiyue Gu, Yan Huang

Mol Genet Genomic Med. 2022 Jun; 10(6): e1948. Published online 2022 Apr 9. doi: 10.1002/mgg3.1948

PMCID:: PMC9184666

Article PDF–1.7M

Select item 909072415.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

Miriam S. Reuter, Michael Zech, Maja Hempel, Janine Altmüller, Tracy Heung, Laura Pölsler, René Santer, Holger Thiele, Brett Trost, Christian Kubisch, Stephen W. Scherer, Sabine Rudnik-Schöneborn, Anne S. Bassett, Davor Lessel

Eur J Hum Genet. 2022 May; 30(5): 611–618. Published online 2022 Mar 18. doi: 10.1038/s41431-022-01077-y