Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability

We describe two unrelated Indian boys with Mental retardation with language impairment with or without autistic features (OMIM#613670). Novel pathogenic variants c. 593_599 delins AGAAG and c.1556T>C in FOXP1 were identified in Patients 1 and 2, respectively by exome sequencing. The patients shar...

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Veröffentlicht in:	American journal of medical genetics. Part A 2021-04, Vol.185 (4), p.1324-1327
Hauptverfasser:	Moirangthem, Amita, Phadke, Shubha R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Camptodactyly developmental delay Foxp1 protein frontal upsweep hair Hair Intellectual disabilities Language Language disorders Phenotypes speech delay
Online-Zugang:	Volltext
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