| 概要 |
Wiedemann-Rautenstrauch syndrome (WDRTS), also known as neonatal progeroid syndrome, is a rare autosomal recessive condition characterized by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations, and unusual face. It has been reported that mutations in POLR3A cause this syndrome. POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III.
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| 著者 |
Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV |
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| 著者 |
Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmuller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Muller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC |
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