PMC Articles for MedGen (Select 1842981) - PMC

Select item 76780481.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina, Anna Kostareva

BMC Med Genomics. 2020; 13: 175. Published online 2020 Nov 20. doi: 10.1186/s12920-020-00821-x

PMCID:: PMC7678048

Abstract Article PDF–1.3M

Select item 51388402.

An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family

Bin Wang, Yutao Diao, Qiji Liu, Hongqiang An, Ruiping Ma, Guosheng Jiang, Nannan Lai, Ziwei Li, Xiaoxiao Zhu, Lin Zhao, Qiang Guo, Zhen Zhang, Rong Sun, Xia Li

Sci Rep. 2016; 6: 38500. Published online 2016 Dec 6. doi: 10.1038/srep38500

PMCID:: PMC5138840

Abstract Article PDF–645K

Select item 42599723.

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter M. Krawitz, Peter Nürnberg, Reiner Siebert, Hermann Manzke, Stefan Mundlos

Am J Hum Genet. 2014 Dec 4; 95(6): 763–770. doi: 10.1016/j.ajhg.2014.11.004

PMCID:: PMC4259972

Abstract Article PDF–1004K

Select item 35896434.

Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement

Soo Hyun Seo, Mi Jung Park, Shin-Hye Kim, Ok-Hwa Kim, Seungman Park, Sung Im Cho, Sung Sup Park, Moon-Woo Seong

Ann Lab Med. 2013 Mar; 33(2): 150–152. Published online 2013 Feb 21. doi: 10.3343/alm.2013.33.2.150

PMCID:: PMC3589643

Abstract Article PDF–474K

Select item 33552525.

A large duplication involving the IHH locus mimics acrocallosal syndrome

Memnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, Yun Li, Selcuk Apak, Oya Uyguner, Esther Milz, Gudrun Nürnberg, Birsen Karaman, Ayan Gülgören, Karl-Heinz Grzeschik, Peter Nürnberg, Hülya Kayserili, Bernd Wollnik

Eur J Hum Genet. 2012 Jun; 20(6): 639–644. Published online 2012 Jan 11. doi: 10.1038/ejhg.2011.250

PMCID:: PMC3355252

Abstract Article PDF–440K

Select item 10504606.

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

A Schinzel

J Med Genet. 1988 May; 25(5): 332–336. doi: 10.1136/jmg.25.5.332

PMCID:: PMC1050460

Summary Page Browse PDF–1.2M

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