The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Autor: Ernst, Anja, Le, Vang Q., Højland, Allan T., Pedersen, Inge S., Sørensen, Tine H., Bjerregaard, Lise L., Lyngbye, Troels J.B., Gammelager, Ninna M., Krarup, Henrik, Petersen, Michael B.

The family presented with 4 boys, 2 sets of brothers, with unexplained intellectual disability. Numerous analyses had been conducted over more than a decade, without reaching a final clinical or molecular diagnosis. According to the pedigree, an X-li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::484cc277d3acbd65c9b23ec5b023afba
https://europepmc.org/articles/PMC4662274/

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

Autor: Ernst A; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark., Le VQ; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark., Højland AT; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Pedersen IS; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark., Sørensen TH; Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark., Bjerregaard LL; Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark., Lyngbye TJ; Center for Deafblindness and Hearing Impairment, Aalborg, Denmark ; Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark., Gammelager NM; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Krarup H; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark., Petersen MB; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark ; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.

Publikováno v: Molecular syndromology [Mol Syndromol] 2015 Oct; Vol. 6 (4), pp. 181-6. Date of Electronic Publication: 2015 Sep 29.