Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing. | Am J Med Genet A;173(7): 1994-1995, 2017 Jul. | MEDLINE

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Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing.

Li, Chumei; Wang, Yongdong; Szybowska, Marta.

Affiliation

Li C; McMaster University Medical Center, Hamilton, Ontario, Canada.
Wang Y; McMaster University Medical Center, Hamilton, Ontario, Canada.
Szybowska M; McMaster University Medical Center, Hamilton, Ontario, Canada.

Am J Med Genet A ; 173(7): 1994-1995, 2017 Jul.

Article in En | MEDLINE | ID: mdl-28475273

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Canada

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Canada