机译:Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux
Haidian Dist Maternal & Child Hlth Care Hosp;
acromesomelic dysplasia; type Maroteaux; Crouzon syndrome; FGFR2; NPR2; whole-exome sequencing; RECEPTOR-B NPR2; SHORT-STATURE; HETEROZYGOUS MUTATIONS; GROWTH; ASSOCIATION;