Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
Crossref DOI link: https://doi.org/10.1186/s40246-016-0082-2
Published Online: 2016-07-16
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Makrythanasis, Periklis
Guipponi, Michel
Santoni, Federico A.
Zaki, Maha
Issa, Mahmoud Y.
Ansar, Muhammad
Hamamy, Hanan
Antonarakis, Stylianos E.
Funding for this research was provided by:
Gebert Rüf Stiftung (DE)
von Meissner
Bodossaki Foundation