A case report of PHF6 mosaicism: Beyond the classic Börjeson‐Forssman‐Lehmann syndrome-Reference-Cited by-同舟云学术

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A case report of PHF6 mosaicism: Beyond the classic Börjeson‐Forssman‐Lehmann syndrome

Published:2021-05-26 Issue:4 Volume:38 Page:919-925
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Garcia‐Melendo Cristina¹^ORCID,Roé Esther¹,Rodríguez‐Santiago Benjamín²,Amat‐Samaranch Victòria¹^ORCID,Cubiró Xavier¹,Puig Lluís¹,Boronat Susana³

Affiliation:

1. Department of Dermatology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

2. Department of Genetics Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

3. Department of Pediatrics Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14636

Reference29 articles.

1. An X-linked, Recessively Inherited Syndrome Characterized by Grave Mental Deficiency, Epilepsy, and Endocrine Disorder

2. Distinct phenotype of PHF6 deletions in females

3. Females with de novo aberrations inPHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome

4. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epigenetic regulation of craniofacial development and disease;Birth Defects Research;2023-11-14

2. Pigmentary mosaicism;Clinics in Dermatology;2022-07

3. Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6 ;Clinical Genetics;2022-06-14

4. Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions;European Journal of Medical Genetics;2022-03

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