Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Cranioectodermal Dysplasia[original query] |
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Identification of five novel genetic loci related to facial morphology by genome-wide association studies.
![]() 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 |
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants. Frontiers in molecular biosciences 2024 1 10 1285790. Joanna Walczak-Sztulpa, Anna Wawrocka, ?ukasz Kuszel, Paulina Pietras, Marta Le?niczak-Staszak, Miros?aw Andrusiewicz, Maciej R Krawczy?ski, Anna Latos-Biele?ska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M Oud, Witold Szaflars |
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