Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
Offiah
A C
AC
Mansour
S
S
Jeffrey
I
I
Nash
R
R
Whittock
N
N
Pyper
R
R
Bewley
S
S
Clayton
P T
PT
Hall
C M
CM
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D002114:Calcinosis / Q000175:diagnosis / Q000000981:diagnostic imaging; D002784:Cholesterol / Q000737:chemistry / Q000378:metabolism; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000000981:diagnostic imaging; D010641:Phenotype; D011247:Pregnancy; D011859:Radiography; D013261:Sterols / Q000032:analysis / Q000378:metabolism
D013261:Sterols; D002784:Cholesterol