A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.

Renato Assis MachadoShirlene B FerreiraLuciane MartinsMariana M RibeiroDaniella R B MartelliRicardo D ColettaMarcos J B AguiarHercílio Martelli-Júnior

Published in: American journal of medical genetics. Part A (2017)

Keyphrases

early onset
copy number
genome wide
case report
genome wide identification
gene expression