De Barsy syndrome: a review of the phenotype-Reference-Cited by-同舟云学术

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De Barsy syndrome: a review of the phenotype

Published:2008-04 Issue:2 Volume:17 Page:99-107
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Kivuva Emma C.,Parker Michael J.,Cohen Marta C.,Wagner Bart E.,Sobey Glenda

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. Congenital corneal opacification in De Barsy syndrome;Aldave;Arch ophthalmol,2001

2. Gerodermia Osteodysplastica and Wrinkly Skin syndrome: are they the same;Al-Gazali;Am J Med Genet,2001

3. The de Barsy syndrome;Arazi;Turk J Pediatr,2001

4. Skeletal dysplasia;Bartsocas,1982

5. De Barsy syndrome, a further case;Burck;Klin Padiatr,1974

Cited by 45 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. De Barsy syndrome due to ALDH18A1 mutation – Expanding the spectrum of a rare neurocutaneous syndrome;Human Gene;2024-05

2. Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families;The Journal of Gene Medicine;2023-04-29

3. De Barsy Syndrome: A Case Report of a Rare Genetic Disorder;Cureus;2023-01-02

4. Progeroid syndrome of De Barsy – a case report and review of ophthalmic literature;Ophthalmic Genetics;2022-12-16

5. Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature;European Journal of Medical Genetics;2022-09

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