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

BACKGROUND: The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability. RESULTS: We report two affected siblings, offspring of first-cousin parents, with intellectual disability, hypotonia, sho...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genomics
Egile Nagusiak: Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Primary Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4947303/
https://ncbi.nlm.nih.gov/pubmed/27421267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-016-0082-2
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