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searching for Germline mosaicism 9 found (17 total)

alternate case: germline mosaicism

Myotubularin 1 (881 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
DeSanto-Shinawi syndrome (546 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
RPS6KA3 (1,366 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 (1,076 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
Pitt–Hopkins syndrome (1,305 words) [view diff] exact match in snippet view article find links to article
siblings is low, but higher than the general population due to parental germline mosaicism. A Pitt–Hopkins-like phenotype has been assigned to autosomal recessive
Anophthalmia (2,106 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
Maturity onset diabetes of the young (2,573 words) [view diff] exact match in snippet view article find links to article
of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism". The Journal of Clinical Endocrinology and Metabolism. 89 (6): 2905–8
Twinkle (protein) (1,850 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
Neonatal diabetes (4,294 words) [view diff] exact match in snippet view article find links to article
of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism". The Journal of Clinical Endocrinology and Metabolism. 89 (6): 2905–8