Split hand/foot malformation associated with 20p12.1 deletion: A case report-Reference-Cited by-同舟云学术

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Split hand/foot malformation associated with 20p12.1 deletion: A case report

Published:2020-04 Issue:4 Volume:63 Page:103805
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ruaud Lyse,Flöttmann Ricarda,Spielmann Malte,Escande Fabienne,Van Maldergem Lionel,Mundlos Stefan,Piard Juliette

Funder

Deutsche Forschungsgemeinschaft

M.S.I. Foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference15 articles.

1. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD);Armour;Eur. J. Hum. Genet. EJHG,2011

2. Hotspots of large rare deletions in the human genome;Bradley;PLoS One,2010

3. Copy-number variants and candidate gene mutations in isolated split hand/foot malformation;Carter;J. Hum. Genet.,2017

4. The evolution of lineage-specific regulatory activities in the human embryonic limb;Cotney;Cell,2013

5. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation;Enriquez;Am. J. Med. Genet. A.,2016

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Case of Fibular Aplasia-Tibial Campomelia-Oligosyndactyly (FATCO) Syndrome Associated With Split Hand/Foot Syndrome With Long Bone Deficiency (SHFLD) and Review of the Literature;Cureus;2024-07-22

2. Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?;American Journal of Medical Genetics Part A;2023-02-26

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