Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Mucopolysaccharidosis Type Iiic[original query] |
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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 631-643. Schiff Elena R, Daich Varela Malena, Robson Anthony G, Pierpoint Karen, Ba-Abbad Rola, Nutan Savita, Zein Wadih M, Ullah Ehsan, Huryn Laryssa A, Tuupanen Sari, Mahroo Omar A, Michaelides Michel, Burke Derek, Harvey Katie, Arno Gavin, Hufnagel Robert B, Webster Andrew |
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. Metabolic brain disease 2023 4 . Liang Yingjun, Gao Xiaolan, Lu Deyun, Zhang Huiwen, Zhan |
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