A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

The role of autosomal recessive (AR) variants in clinically heterogeneous conditions such as intellectual disability and developmental delay (ID/DD) has been difficult to uncover. Implication of causative pathogenic AR variants often requires investigation within large and consanguineous families, a...

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Veröffentlicht in:	Cytogenetic and genome research 2019, Vol.159 (1), p.19-25
Hauptverfasser:	Paulraj, Prabakaran, Bosworth, Michelle, Longhurst, Maria, Hornbuckle, Callie, Gotway, Garrett, Lamb, Allen N., Andersen, Erica F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence - genetics Cell Cycle Proteins - genetics Child Consanguinity Cytoskeleton - genetics Cytoskeleton - metabolism Developmental Disabilities - genetics Humans Intellectual Disability - genetics Male Novel Insights from Clinical Practice Polymorphism, Single Nucleotide - genetics Sequence Deletion - genetics
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