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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 15"
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Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW. Amudhavalli SM, et al. Am J Med Genet A. 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. Am J Med Genet A. 2018. PMID: 30160832
Ayme-Gripp syndrome (AGS) is an autosomal dominant multisystem disorder caused by specific heterozygous variants in MAF. ...AGS is characterized by congenital cataracts, sensorineural hearing loss, short stature, intellectual disability, and distinctiv …
Ayme-Gripp syndrome (AGS) is an autosomal dominant multisystem disorder caused by specific heterozygous variants in MAF. ...AG …
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM. Schrauwen I, et al. Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14. Eur J Hum Genet. 2019. PMID: 30872814 Free PMC article. Clinical Trial.
We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with autosomal dominant non-syndromic HI segregating a rare variant in the Calponin-homology 2 domain of PLS1, or Plastin 1 [p....We …
We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with …