Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype-Reference-Cited by-同舟云学术

Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

Published:2016-04-29 Issue:7 Volume:170 Page:1799-1805
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Scalais Emmanuel¹,Connerotte Anne-Catherine¹²,Despontin Karine²,Biver Armand²,Ceuterick-de Groote Chantal³,Alders Marielle⁴,Kolivras Athanassios⁵,Hachem Jean-Pierre⁶,De Meirleir Linda⁷

Affiliation:

1. Division of Pediatric Neurology; Centre Hospitalier de Luxembourg; Luxembourg Luxembourg

2. Department of Pediatrics; Centre Hospitalier de Luxembourg; Luxembourg Luxembourg

3. Department of Neuropathology; Institute Born-Bunge and University of Antwerp; Antwerpen Belgium

4. Department of Genetic; Academisch Centrum; Amsterdam Netherlands

5. Departments of Dermatology and Dermatopathology; Saint-Pierre, Brugmann and HUDERF Hospitals; Université Libre de Bruxelles; Brussels Belgium

6. Department of Dermatology; Centre Hospitalier Emile Mayrisch; Luxembourg Luxembourg

7. Department of Pediatric Neurology and Metabolic; UZBrussel Vrije Universiteit; Brussel Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Usefulness of pancreatic ultrasonography in the diagnosis of Shwachman-Bodian-Diamond syndrome;Adachi;Acta Paediatr,2005

2. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome;Akiyama;J Invest Dermatol,2003

3. Shwachman-Diamond syndrome presenting as hypoglycemia;Albrecht;Clin Pediatr (Phila),2009

4. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family;Boocock;Genomics,2006

5. Mutations in SBDS are associated with Shwachman-Diamond syndrome;Boocock;Nat Genet,2003

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3. Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes;BMC Medical Genomics;2021-05-26

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