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Title

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

Authors
Zaki, Maha
Issa, Mahmoud Y
Hamamy, Hanan
Published in Human Genomics. 2016, vol. 10, no. 1, p. 26
Abstract The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.
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PMID: 27421267
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Article (Published version) (1.6 MB) - public document Free access
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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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. https://archive-ouverte.unige.ch/unige:88995

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Deposited on : 2016-11-16

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