Palavra-chave: SKELETAL DYSPLASIA

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