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A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
Akalin, Akçahan; Simsek-Kiper, Pelin Özlem; Taskiran, Ekim Z; Karaosmanoglu, Beren; Utine, Gülen Eda; Boduroglu, Koray.
Affiliation
  • Akalin A; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Simsek-Kiper PÖ; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Karaosmanoglu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Am J Med Genet A ; 191(4): 1119-1127, 2023 04.
Article in En | MEDLINE | ID: mdl-36630262
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Dwarfism / Microcephaly Type of study: Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: Turkey
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Dwarfism / Microcephaly Type of study: Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: Turkey