A complex structural variant near SOX3 causes X-linked split-hand/foot malformation-Reference-Cited by-同舟云学术

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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Published:2023-07 Issue:3 Volume:4 Page:100200
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

de Boer Elke^ORCID,Marcelis Carlo,Neveling Kornelia,van Beusekom Ellen,Hoischen Alexander,Klein Willemijn M.,de Leeuw Nicole,Mantere Tuomo,Melo Uirá S.,van Reeuwijk Jeroen,Smeets Dominique,Spielmann Malte,Kleefstra Tjitske,van Bokhoven Hans,Vissers Lisenka E.L.M.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference62 articles.

1. Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: why Maisels was correct;Elliott;Am. J. Med. Genet.,2021

2. Nonsyndromic split-hand/foot malformation: recent classification;Umair;Mol. Syndromol.,2020

3. Split-hand/foot malformation - molecular cause and implications in genetic counseling;Sowińska-Seidler;J. Appl. Genet.,2014

4. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27;Ianakiev;Am. J. Hum. Genet.,2000

5. Osteoporosis. Chapter 10 - Development of the Skeleton;Provot,2008

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