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searching for Germline mosaicism 7 found (17 total)

Myotubularin 1 (887 words) [view diff] exact match in snippet view article find links to article

PMID 10063835. S2CID 10574620. Häne BG, Rogers RC, Schwartz CE (1999). "Germline mosaicism in X-linked myotubular myopathy". Clin. Genet. 56 (1): 77–81. doi:10

RPS6KA3 (1,380 words) [view diff] exact match in snippet view article find links to article

Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A (1999). "Germline mosaicism in Coffin-Lowry syndrome". European Journal of Human Genetics. 6 (6):

Incontinentia pigmenti (1,078 words) [view diff] exact match in snippet view article find links to article

gene mutation. Parents may either be clinically affected or have germline mosaicism. Affected women have a 50% risk of transmitting the mutant IKBKG allele

DeSanto-Shinawi syndrome (563 words) [view diff] exact match in snippet view article find links to article

development. There are 2-3 familial recurrences due to a presumed germline mosaicism. The condition is inherited in an autosomal dominant manner. The diagnosis

Anophthalmia (2,167 words) [view diff] exact match in snippet view article find links to article

cell and the offspring will inherit it through that. This is called germline mosaicism. There are at least 33 mutations in the Sox2 gene that have been known

Twinkle (protein) (1,860 words) [view diff] exact match in snippet view article

"Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism". Neurology. 64 (2): 371–3. doi:10.1212/01.WNL.0000149767.51152.83

Ultra-conserved element (4,384 words) [view diff] exact match in snippet view article find links to article

"PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism". European Journal of Human Genetics. 8 (11): 820–826. doi:10.1038/sj