Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
Published inHuman genomics, vol. 10, no. 1, 26
Publication date2016
Abstract
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
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Article (Published version)
Identifiers
- PID : unige:88995
- DOI : 10.1186/s40246-016-0082-2
- PMID : 27421267
ISSN of the journal1473-9542
