De Novo Mutation inABCC9Causes Hypertrichosis Acromegaloid Facial Features Disorder-Reference-Cited by-同舟云学术

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De Novo Mutation inABCC9Causes Hypertrichosis Acromegaloid Facial Features Disorder

Published:2016-02-12 Issue:2 Volume:33 Page:e109-e113
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Afifi Hanan H.¹,Abdel-Hamid Mohamed S.²,Eid Maha M.³,Mostafa Inas S.⁴,Abdel-Salam Ghada M.H.¹

Affiliation:

1. Clinical Genetics Department; National Research Centre; Cairo Egypt

2. Medical Molecular Genetics Department; National Research Centre; Cairo Egypt

3. Human Cytogenetics Department; National Research Centre; Cairo Egypt

4. Orodental Genetics Department; National Research Centre; Cairo Egypt

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12821/fullpdf

Reference15 articles.

1. Cantu syndrome is caused by mutations in ABCC9;Bon;Am J Hum Genet,2012

2. Dominant missense mutations in ABCC9 cause Cantú syndrome;Harakalova;Nat Genet,2012

3. Online Mendelian Inheritance in Man. Cantu Syndrome. OMIM 2015 http://www.ncbi.nlm.nih.gov/omim/

4. Cantú syndrome: report of nine new cases and expansion of the clinical phenotype;Scurr;Am J Med Genet,2011

5. An autosomal dominant syndrome with ‘acromegaloid’ features and thickened oral mucosa;Hughes;J Med Genet,1985

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3. Non-Plaque Induced Diffuse Gingival Overgrowth: An Overview;Applied Sciences;2022-04-07

4. Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice;JCI Insight;2021-03-08

5. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants;European Journal of Medical Genetics;2020-09

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