Palavra-chave: SKELETAL DYSPLASIA

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