Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.
Conwell
Louise S
LS
Department of Endocrinology and Diabetes, Royal Children's Hospital, Brisbane, Australia. Louise_Conwell@health.qld.gov.au
Hermanns
Pia
P
Zankl
Andreas
A
D001827:Body Height; D002356:Cartilage / Q000002:abnormalities*; D002357:Cartilage Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D004722:Endoribonucleases / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D010641:Phenotype; D011859:Radiography; D012261:Ribonucleoproteins / Q000235:genetics
D012261:Ribonucleoproteins; D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease