Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; Issa, Mahmoud Y; Ansar, Muhammad; Hamamy, Hanan; Antonarakis, Stylianos

doi:10.1186/s40246-016-0082-2

Scientific article

English

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

ContributorsMakrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; Issa, Mahmoud Y; Ansar, Muhammad; Hamamy, Hanan; Antonarakis, Stylianos

Published inHuman genomics, vol. 10, no. 1, 26

Publication date2016

Abstract

The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research groups

Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)

Citation (ISO format)

MAKRYTHANASIS, Periklis et al. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree. In: Human genomics, 2016, vol. 10, n° 1, p. 26. doi: 10.1186/s40246-016-0082-2

Article (Published version)

Identifiers

PID : unige:88995
DOI : 10.1186/s40246-016-0082-2
PMID : 27421267

Journal ISSN1473-9542

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Creation16/11/2016 10:01:00

First validation16/11/2016 10:01:00

Update15/03/2023 00:56:14

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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.

Technical informations