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27. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631 [TBL] [Abstract][Full Text] [Related]
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37. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree. Makrythanasis P; Guipponi M; Santoni FA; Zaki M; Issa MY; Ansar M; Hamamy H; Antonarakis SE Hum Genomics; 2016 Jul; 10(1):26. PubMed ID: 27421267 [TBL] [Abstract][Full Text] [Related]
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