| 概要 |
Lessel-Kubisch syndrome (LSKB) is a segmental progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma-like skin changes, a high-pitched voice, hypogonadism, small kidneys, and consequent kidney failure, followed by severe arterial hypertension. A homozygous germline mutation in MDM2 has been identified in a patient. MDM2 encodes an E3 ubiquitin ligase that regulates the tumor suppressor p53, a master regulator of the cellular response to stress.
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| 著者 |
Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Schutz P, Speit G, Hogel J, Thiele H, Nurnberg G, Nurnberg P, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C |
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