Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)-Reference-Cited by-同舟云学术

Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)

Published:2009-01 Issue:1 Volume:73 Page:143-151
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Skarzynski Henryk,Podskarbi-Fayette Robert

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference26 articles.

1. Atrophoderma linearis maculosa et papillomatosis congenitalis;Libermann;Acta Derm Venerol (Stockh),1935

2. Focal dermal hypoplasia;Goltz;Arch Dermatol,1962

3. Focal dermal hypoplasia syndrome;Gorlin;Acta Derm Venerol (Stockh),1963

4. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia;Wang;Nat Genet,2007

5. Focal dermal hypoplasia (Goltz syndrome) in male infant. A case report;Feinberg;S Afr Med,1976

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1. A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome;Journal of Pediatric Ophthalmology & Strabismus;2022-10-20

2. Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK;BMJ Case Reports;2019-12

3. Focal Dermal Hypoplasia;Harper's Textbook of Pediatric Dermatology;2019-11-20

4. Hereditary Disorders of the Dermis;Therapy in Pediatric Dermatology;2016-12-17

5. Focal Dermal Hypoplasia;Harper's Textbook of Pediatric Dermatology;2011-05-24