De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features-Reference-Cited by-同舟云学术

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

Published:2015-05-31 Issue:10 Volume:167 Page:2418-2424
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Afifi Hanan H.¹,Fukai Ryoko²,Miyake Noriko²,Gamal el Din Amina A.³,Eid Maha M.⁴,Eid Ola M.⁴,Thomas Manal M.¹,El-Badry Tarek H.⁵,Tosson Angie M. S.⁶,Abdel-Salam Ghada M. H.¹,Matsumoto Naomichi²

Affiliation:

1. Clinical Genetics Department; Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

2. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

3. Pathology Department; Medical Research Division; National Research Centre; Cairo Egypt

4. Human Cytogenetics Department; Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

5. Orodental Genetics Department; Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

6. Pediatric Department; Faculty of Medicine; Cairo University; Cairo Egypt

Funder

Ministry of Health, Labour and Welfare of Japan

the Takeda Science Foundation; the Japan Science and Technology Agency

the Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37185/fullpdf

Reference14 articles.

1. Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis;Anavi;Dev Med Child Neurol,1989

2. Julia Pastrana, the nondescript: An example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia;Bondeson;Am J Med Genet,1993

3. Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: A new distinct entity;Canun;Am J Med Genet,2003

4. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth;DeStefano;PLoS Genet,2014

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1. Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis;JAMA Dermatology;2021-06-01

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3. Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report;Serbian Journal of Dermatology and Venereology;2016-03-01