HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in HNRNPH2‐related X‐linked intellectual disability, Bain type (MRXSB), specific...

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Veröffentlicht in:	Clinical genetics 2020-07, Vol.98 (1), p.91-98
Hauptverfasser:	Reichert, Sara C., Li, Rachel, Turner, Scott, Jaarsveld, Richard H., Massink, Maarten P.G., Boogaard, Marie‐José H., Toro, Mireia, Rodríguez‐Palmero, Agustí, Fourcade, Stéphane, Schlüter, Agatha, Planas‐Serra, Laura, Pujol, Aurora, Iascone, Maria, Maitz, Silvia, Loong, Lucy, Stewart, Helen, De Franco, Elisa, Ellard, Sian, Frank, Julie, Lewandowski, Raymond
Format:	Artikel
Sprache:	eng
Schlagworte:	congenital abnormalities Congenital defects Epilepsy HNRNPH1 gene Intellectual disabilities intellectual disability microcephaly Neurodevelopmental disorders Palate whole exome sequencing
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