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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Sep 30, 2023. (Total: 221577Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Cranioectodermal Dysplasia[original query]
Identification of five novel genetic loci related to facial morphology by genome-wide association studies. GWAS Catalog
BMC genomics 2018 Jun 19 (1): 481.
Cha Seongwon, Lim Ji Eun, Park Ah Yeon, Do Jun-Hyeong, Lee Si Woo, Shin Chol, Cho Nam Han, Kang Ji-One, Nam Jeong Min, Kim Jong-Sik, Woo Kwang-Man, Lee Seung-Hwan, Kim Jong Yeol, Oh Bermse
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
American journal of medical genetics. Part A 2022 7 188 (10): 3071-3077.
Walczak-Sztulpa Joanna, Wawrocka Anna, Sikora Weronika, Pawlak Marta, Bukowska-Olech Ewelina, Kopaczewski Bart?omiej, Urzykowska Agnieszka, Arts Heleen H, Gotz-Wi?ckowska Anna, Grenda Ryszard, Latos-Biele?ska Anna, Glazar Rena
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