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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0027960 (
mole
)
21,279
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red
nevus
with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the
FGFR2 protein
, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.
...
PMID:A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. 1214 19
