title: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
authors.forename: A C
authors.initials: AC
authors.lastname: Offiah
authors.forename: S
authors.initials: S
authors.lastname: Mansour
authors.forename: I
authors.initials: I
authors.lastname: Jeffrey
authors.forename: R
authors.initials: R
authors.lastname: Nash
authors.forename: N
authors.initials: N
authors.lastname: Whittock
authors.forename: R
authors.initials: R
authors.lastname: Pyper
authors.forename: S
authors.initials: S
authors.lastname: Bewley
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
mesh_terms: 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
chemical_list: D013261:Sterols; D002784:Cholesterol