Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.

Dieterich, Klaus; Kimber, Eva; Hall, Judith G

Dieterich, Klaus; Kimber, Eva; Hall, Judith G.

Affiliation

Dieterich K; Univ. Grenoble Alpes, Inserm, U1216, GIN, Grenoble, France.
Kimber E; CHU Grenoble Alpes, Génétique Médicale, Grenoble, France.
Hall JG; Department of Women's and Children's Health, Uppsala University Children's Hospital, Uppsala, Sweden.

Am J Med Genet C Semin Med Genet ; 181(3): 345-353, 2019 09.

Article in En | MEDLINE | ID: mdl-31410997

Subject(s)

Arthrogryposis/diagnosis; Arthrogryposis/pathology; Brain/pathology; Arthrogryposis/genetics; Electroencephalography/methods; Humans; Intellectual Disability/genetics; Intellectual Disability/pathology; Magnetic Resonance Imaging/methods; Spinal Cord/pathology

Key words

arthrogryposis multiplex congenita; central nervous system involvement; intellectual disability; multi-organ involvement; neonatally lethal AMC syndromes

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Full text: 1 Database: MEDLINE Main subject: Arthrogryposis / Brain Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet C Semin Med Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: France

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