Palavra-chave: SKELETAL DYSPLASIA

TARGETED NGS DISLOCATION BLOMSTRAND DYSPLASIA IFT80 GENE CANT1 GENE INBORN ERRORS OF METABOLISM KANTAPUTRA DYSPLASIA HYPOCHONDROPLASIA SPONASTRIME NEONATAL LETHAL; LATIN AMERICA LETHAL OSTEOCHONDRODYSPLASIA XYLT1 GENE BEEMER-LANGER DYSPLASIA DESBUQUOIS DYSPLASIA ADAMTSL2 SKELETAL CILIOPATHY F384L EXOME SEQUENCING GELEOPHYSIC DYSPLASIA; FGFR3 DYNC2H1 GENE SHORT-RIB-POLYDACTYLY FOUNDER EFFECT AL-GAZALI SKELETAL DYSPLASIA DESBUQUOIS RMRP MESOMELIC SHORTENING KIAA0753 GENE CHH TELEMEDICINE PROTEOGLYCAN ACHONDROGENESIS XYLT1 PTHR1 GENE HYDROPS OSTEOGENESIS IMPERFECTA PRKAR1A GENE TONSL GENE BIRTH DEFECTS ACHONDROPLASIA BONE SCLEROSIS