Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome-Reference-Cited by-同舟云学术

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome

Published:2022-12 Issue:12 Volume:65 Page:104653
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Zepeda-Romero Luz Consuelo,Zenker Martin,Schanze Denny,Schanze Ina,Peña-Padilla Christian,Quezada-Salazar Claudia Angélica,Pacheco-Torres Paulina Araceli,Rivera-Montellano María Luisa,Aguirre-Guillén Rafael Luis,Bobadilla-Morales Lucina,Corona-Rivera Alfredo,Corona-Rivera Jorge Román^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome;Abualait;J. Dermatol. Dermatol. Surg.,2019

2. A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2;Alzahem;Ophthalmic Genet.,2020

3. Adams Oliver syndrome: a mimicker of familial exudative vitreoretinopathy;Alsulaiman;Am. J. Ophthalmol. Case Rep.,2020

4. Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome;Amor;Am. J. Med. Genet.,2000

5. Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome;Balasubramanian;Eur. J. Med. Genet.,2009

Cited by 3 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. Large skin defect in Type V aplasia cutis congenita treated with conservative treatment: a case report;BMC Pediatrics;2024-05-07

2. A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome;Molecular Biology Reports;2023-05-03

3. Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects;Clinical Dysmorphology;2023-02-02