A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

Keyphrases

• Receptor Gene 100%
• Mutation Analysis 100%
• Fibroblast Growth Factor Receptor 1 (FGFR1) 100%
• Recurrent Urinary Tract Infections (rUTIs) 100%
• Fibroblast Growth Factor Receptor 2 (FGFR2) 100%
• Forehead 66%
• Missense mutation 33%
• At Birth 33%
• Amino Acid Substitution 33%
• Tyrosine 33%
• Cysteine 33%
• Hydrocephalus 33%
• DNA Analysis 33%
• Craniosynostosis 33%
• Stump 33%
• Ventriculoperitoneal Shunt 33%
• Patient Fibroblasts 33%
• Exon 10 33%
• Umbilical 33%
• Proptosis 33%
• Nevus 33%
• Skin Tag 33%
• Craniofacial Dysmorphism 33%
• Facial Advancement 33%

Medicine and Dentistry

• Receptor Gene 100%
• Fibroblast Growth Factor Receptor 100%
• Fibroblast Growth Factor Receptor 2 100%
• Skin 100%
• Amino Acid Substitution 33%
• Exon 33%
• Hydrocephalus 33%
• Craniofacial Synostosis 33%
• DNA Determination 33%
• Cysteine 33%
• Missense Mutation 33%
• Brain Ventricle Peritoneum Shunt 33%
• Exophthalmos 33%
• Skin Tag 33%
• Nevus 33%