Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Seidahmed, Mohammed Zain; Maddirevula, Sateesh; Miqdad, Abeer M; Al Faifi, Abdullah; Al Samadi, Abdulmohsen; Alkuraya, Fowzan S

Seidahmed, Mohammed Zain; Maddirevula, Sateesh; Miqdad, Abeer M; Al Faifi, Abdullah; Al Samadi, Abdulmohsen; Alkuraya, Fowzan S.

Affiliation

Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Miqdad AM; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Al Faifi A; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Am J Med Genet A ; 185(3): 945-948, 2021 03.

Article in En | MEDLINE | ID: mdl-33369052

Subject(s)

Abnormalities, Multiple/genetics; Arachnodactyly/genetics; Blepharophimosis/genetics; Connective Tissue Diseases/genetics; Contracture/genetics; Ion Channels/genetics; Abnormalities, Multiple/diagnostic imaging; Abnormalities, Multiple/embryology; Adult; Agenesis of Corpus Callosum/diagnostic imaging; Agenesis of Corpus Callosum/genetics; Amino Acid Sequence; Amino Acid Substitution; Arachnodactyly/diagnostic imaging; Arachnodactyly/embryology; Blepharophimosis/diagnostic imaging; Blepharophimosis/embryology; Child; Clubfoot/diagnosis; Clubfoot/embryology; Clubfoot/genetics; Connective Tissue Diseases/diagnostic imaging; Connective Tissue Diseases/embryology; Consanguinity; Contracture/diagnostic imaging; Contracture/embryology; Dandy-Walker Syndrome/diagnostic imaging; Dandy-Walker Syndrome/embryology; Dandy-Walker Syndrome/genetics; Female; Genetic Association Studies; Humans; Intellectual Disability/genetics; Ion Channels/deficiency; Male; Pedigree; Sequence Alignment; Sequence Homology, Amino Acid; Ultrasonography, Prenatal

Key words

Dandy-Walker malformation; Marden-Walker syndrome; arthrogryposis multiplex congenita; blepharophimosis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Blepharophimosis / Connective Tissue Diseases / Contracture / Arachnodactyly / Ion Channels Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Saudi Arabia

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