An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
American journal of medical genetics. Part A, cilt.191, ss.1530-1545, 2023 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 191
- Basım Tarihi: 2023
- Doi Numarası: 10.1002/ajmg.a.63180
- Dergi Adı: American journal of medical genetics. Part A
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Sayfa Sayıları: ss.1530-1545
- Anahtar Kelimeler: CMA, intellectual disability, OGID, overgrowth, WES
- Dokuz Eylül Üniversitesi Adresli: Evet