Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes.
Shastry, S., Simha, V., Godbole, K., Sbraccia, P., Melancon, S., Yajnik, C., et al. (2010). A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 95(10), E192-E197 [10.1210/jc.2010-0419].
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism
SBRACCIA, PAOLO;NOVELLI, GIUSEPPE;
2010-10-01
Abstract
Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes.File in questo prodotto:
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Garg Novel Syndrome JCEM 2010.pdf
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