Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

OBJECTIVE: Digenic causes of human disease are rarely reported. Insulin via its receptor, which is encoded by INSR, plays a key role in both metabolic and growth signaling pathways. Heterozygous INSR mutations are the most common cause of monogenic insulin resistance. However, growth retardation is...

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Những tác giả chính: Suliman, S, Stanik, J, McCulloch, L, Wilson, N, Edghill, E, Misovicova, N, Gasperikova, D, Sandrikova, V, Elliott, K, Barak, L, Ellard, S, Volpi, E, Klimes, I, Gloyn, A
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: 2009

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