Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?-Reference-Cited by-同舟云学术

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Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?

Published:2006 Issue:24 Volume:140A Page:2709-2713
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Warburg Mette,Ullman Susanne,Jensen Hanne,Pedersen Hans,Kobayashi Takasi,Russell Bjørn,Tranebjaerg Lisbeth,Richard Gabriele,Brøndum-Nielsen Karen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. 2005. Geneeye Version 1.06. London Medical Databases.

2. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review

3. Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems

4. The Hajdu-Cheney syndrome: A case report and review of the literature

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1. Progressive conjunctival invasion of cornea in a child with Warburg-Cinotti Syndrome: a case report;BMC Ophthalmology;2024-08-02

2. Lipodystrophy-associated progeroid syndromes;Hormones;2022-07-15

3. Progression of skin lesions in Warburg-Cinotti syndrome;JAAD Case Reports;2022-02

4. Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome;The American Journal of Human Genetics;2018-12

5. Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type;American Journal of Medical Genetics Part A;2013-05-29

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