A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease

Clin Genet. 2017 Jul;92(1):112-114. doi: 10.1111/cge.12907. Epub 2017 Jan 16.

Authors

N Chatron^{1

2}, G Lesca^{1

2}, A Labalme¹, P A Rollat-Farnier¹, P Monin¹, E Pichot³, P Edery^{1

2}, D Sanlaville^{1

2}, M Rossi^{1

2}

Affiliations

¹ Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, Lyon, France.
² INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Lyon, France.
³ Service d'endocrinologie pédiatrique, Hospices Civils de Lyon, Lyon, France.

PMID: 28090630
DOI: 10.1111/cge.12907

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
DNA Mutational Analysis
Female
Humans
Infant
Mutation*
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / metabolism
Proto-Oncogene Proteins / genetics*

Substances

Proto-Oncogene Proteins
SFRP4 protein, human

Supplementary concepts

Pyle disease