Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) <i>PIGL</i> pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report-Reference-Cited by-同舟云学术

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Published:2022-03-08 Issue:3 Volume:39 Page:434-437
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Rolland Marion¹^ORCID,Dubourg Christèle²³,Cospain Auriane²⁴,Droitcourt Catherine¹⁵,Pasquier Laurent⁴^ORCID

Affiliation:

1. Department of Dermatology CHU Rennes Rennes France

2. Department of Molecular Genetics and Genomics CHU Rennes Rennes France

3. UMR 6290 IGDR CNRS University of Rennes Rennes France

4. Department of Medical Genetics Referral Centre for Developmental anomalies and malformation syndromes CHU Rennes Rennes France

5. UMR_S 1085 Irset (Institut de recherche en santé, environnement et travail) EHESP Inserm University of Rennes Rennes France

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14969

Reference13 articles.

1. New syndrome of congenital ichthyosis with neurologic abnormalities

2. Expression Cloning of PIG-L, a CandidateN-Acetylglucosaminyl-phosphatidylinositol Deacetylase

3. Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

4. Alu ‐mediated deletion of PIGL in a Patient with CHIME syndrome

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1. Severe congenital ichthyosiform dermatosis in CHIME syndrome successfully treated with ixekizumab;Pediatric Dermatology;2024-05-21

2. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW ‐related prenatal findings;Prenatal Diagnosis;2022-07-19