Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis-Reference-Cited by-同舟云学术

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis

Published:2006 Issue:13 Volume:140A Page:1440-1446
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Naveed Mohammed,Al-Ali Mahmoud T.,Murthy Sabita K.,Al-Hajali Sarah,Al-Khaja Najib,Deutsch Samuel,Bottani Armand,Antonarakis Stylianos E.,Nath Swapan K.,Radhakrishna Uppala

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis

2. Tibial agenesis with radial ray and cardiovascular defects

3. Congenital Deficiency of the Tibia

Cited by 19 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. Tibial Hemimelia;Pediatric Lower Limb Deformities;2024

2. BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling;American Journal of Medical Genetics Part A;2022-12-24

3. Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance;European Journal of Neurology;2021-01-05

4. Nonsyndromic Split-Hand/Foot Malformation: Recent Classification;Molecular Syndromology;2019

5. 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype;Orphanet Journal of Rare Diseases;2018-07-03