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Titel:

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Dokumenttyp:
Article; Case Reports; Journal Article; Twin Study
Autor(en):
Kreienkamp, Hans-Jürgen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-François; Michaud, Jacques L; Dumas, Meghan; Smith, Rosemarie; Löbel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M; Bain, Jennifer M; Lessel, Davor
Abstract:
Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. Although it was initially postulated that the condition would not be compatible with life in males, several affected male individuals harboring pathogenic variants in HNRNPH2 have since been documented. However, functional in-vitro analyses of identified variants have not...     »
Zeitschriftentitel:
Hum Genet
Jahr:
2022
Band / Volume:
141
Heft / Issue:
2
Seitenangaben Beitrag:
257-272
Volltext / DOI:
doi:10.1007/s00439-021-02412-x
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34907471
Print-ISSN:
0340-6717
TUM Einrichtung:
Institut für Humangenetik
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