Craniometaphyseal dysplasia (CMD), autosomal dominant form
about
The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor geneMolecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasiaBiochemical and genetic analysis of ANK in arthritis and bone diseaseCraniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome.Craniometaphyseal dysplasia.Metaphyseal dysplasia associated with chronic facial nerve palsy.Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis.Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.Update on the application of optic nerve sheath fenestration.Osteochondrodysplasias in South Africa.An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment.Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type.Craniometaphyseal dysplasia.
P2860
Q24677660-44283A0E-44CF-4A23-ADCE-EB031EA80D2AQ34502398-DE64248D-296E-44BE-97BA-1EC53BFB7010Q34952076-ADB29A18-5C67-4A86-9707-F27030F6F29AQ35221731-63F4023F-6D88-46C3-A90F-891336DE152FQ35943524-1801575A-EABC-4251-844D-AB5FA8F53E23Q36708281-E8286937-034A-4136-8E3F-7325C8203807Q37100154-362B5AF8-B9AE-4F52-9047-DF6DF1B72567Q37201663-006DD9CB-3652-4D75-834D-DC508888C977Q38263196-0C4E3173-07CD-407D-AD85-2160503083C6Q39198763-A8774ECA-254F-431E-8772-A5F381BD22B4Q41045359-C2D69598-B849-4A1C-A7A6-39F6A9286AE6Q47111943-2EF2B0B6-29C3-497D-B769-B770C037E3D9Q50506380-BD9B37A9-C331-425C-A434-EF7B26F32048Q52044630-0CD1E0C7-1D2B-446F-A9DB-53EF4570A08B
P2860
Craniometaphyseal dysplasia (CMD), autosomal dominant form
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Craniometaphyseal dysplasia (CMD), autosomal dominant form
@ast
Craniometaphyseal dysplasia (CMD), autosomal dominant form
@en
type
label
Craniometaphyseal dysplasia (CMD), autosomal dominant form
@ast
Craniometaphyseal dysplasia (CMD), autosomal dominant form
@en
prefLabel
Craniometaphyseal dysplasia (CMD), autosomal dominant form
@ast
Craniometaphyseal dysplasia (CMD), autosomal dominant form
@en
P2860
P356
P1476
Craniometaphyseal dysplasia (CMD), autosomal dominant form
@en
P2093
Beighton P
P2860
P304
P356
10.1136/JMG.32.5.370
P407
P577
1995-05-01T00:00:00Z