Palavra-chave: SKELETAL DYSPLASIA

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