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Paternal Uniparental Disomy 11p15.5 in the Pancreatic Nodule of an Infant With Costello Syndrome: Shared Mechanism for Hyperinsulinemic Hypoglycemia in Neonates With Costello and Beckwith–Wiedemann Syndrome and Somatic Loss of Heterozygosity in Costello Syndrome Driving Clonal Expansion

Costello syndrome (CS) entails a cancer predisposition and is caused by activating HRAS mutations, typically arising de novo in the paternal germline. Hypoglycemia is common in CS neonates. A previously reported individual with the rare HRAS p.Gln22Lys had hyperinsulinemic hypoglycemia. Autopsy show...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Am J Med Genet A
मुख्य लेखकों: Gripp, Karen W., Robbins, Katherine M., Sheffield, Brandon S., Lee, Anna F., Patel, Millan S., Yip, Stephen, Doyle, Daniel, Stabley, Deborah, Sol-Church, Katia
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2015
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4784973/
https://ncbi.nlm.nih.gov/pubmed/26572961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37471
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