Biallelic   HERC1   mutations in a syndromic form of overgrowth and intellectual disability | Zendy

OrtegaRecalde O. | Zendy; Beltrán O.I. | Zendy; Gálvez J.M. | Zendy; PalmaMontero A. | Zendy; Restrepo C.M. | Zendy; Mateus H.E. | Zendy; Laissue P. | Zendy

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Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability

Author(s) -

OrtegaRecalde O.,

Beltrán O.I.,

Gálvez J.M.,

PalmaMontero A.,

Restrepo C.M.,

Mateus H.E.,

Laissue P.

Publication year - 2015

Publication title -

clinical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/cge.12634

Subject(s) - sanger sequencing , intellectual disability , exome sequencing , genetics , phenotype , pathogenesis , biology , mutation , exome , gene , disease , genotype , compound heterozygosity , genotype phenotype distinction , bioinformatics , medicine , pathology , immunology

We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS ) and Sanger sequencing revealed that biallelic sequence variants in a novel gene ( HERC1 ) might be related to the disease pathogenesis. These results provide useful data for future genotype–phenotype correlations and for a molecular diagnosis of overgrowth.

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