Stuve-Wiedemann syndrome: Is it underrecognized?-Reference-Cited by-同舟云学术

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Stuve-Wiedemann syndrome: Is it underrecognized?

Published:2014-07-02 Issue:9 Volume:164 Page:2200-2205
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yeşil Gözde¹,Lebre Anne Sophie²³⁴,Santos Sofia Dos³,Güran Ömer⁵,Özahi Ilke Ipek⁵,Daire Valeria Cormier²³⁴,Güran Tülay⁵

Affiliation:

1. Department of Medical Genetics; Bezmialem Vakif University of Medicine; Istanbul Turkey

2. Université Paris Descartes; Sorbonne Paris Cité; Insititut Imagine; Paris France

3. Assistance Publique-Hôpitaux de Paris: Service de Génétique; Hôpital Necker-Enfants Malades; 149, rue de Sèvres 75743 PARIS C 15 France

4. INSERM U781; Hôpital Necker-Enfants Malades; 75015 Paris France

5. Department of Pediatric Endocrinology; Marmara University; Istanbul Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36626/fullpdf

Reference16 articles.

1. Consanguineous marriages in the UAE;Al-Gazali;J Biosoc Sci,1997

2. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population;Al-Gazali;Birth Defects Res A Clin Mol Teratol,2003a

3. Stueve-Wiedemann syndrome in children surviving infancy: Clinical and radiological features;Al-Gazali;Clin Dysmorphol,2003b

4. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: Molecular, cellular, and clinical features from a French national survey;Chandesris;Medicine,2012

5. Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2;Cormier-Daire;Am J Med Genet,1998

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1. A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature;Frontiers in Pediatrics;2024-04-02

2. Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome – A case series from the West Midlands, UK;European Journal of Medical Genetics;2023-08

3. A rare presentation of multiple eruptive vellus hair cysts and dystrophic nails in a pediatric patient with Stüve-Wiedemann syndrome;JAAD Case Reports;2023-08

4. Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review;Orphanet Journal of Rare Diseases;2022-04-23

5. Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature;American Journal of Medical Genetics Part A;2020-12-11

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