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Autor:
Hanane, Latrech, Imane, Skiker, Yassamine, Bentata, Zayneb, Alami, O, Mouhib Lav, Oumnia Mouhib, Lah, Nouredine, Oulali, Nouffissa, Benajiba, S, Benmassoud, Mohammed, El Jabri, Ahmed, Gaouzi, M H, Gharbi, Mohammed El Hassan, Gharbi, Abdelmjid, Chradibi
Publikováno v:
Pediatric endocrinology reviews : PER. 11(2)
Dyggve-Melchiore-Clausen (DMC) syndrome is a are autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the Dymeclin (DYM) gene mapped in the 18q12-12.1 chromosomal region. We report a case