Konu "A529V mutation" için WoS İndeksli Yayınlar Koleksiyonu listeleme
Toplam kayıt 1, listelenen: 1-1
-
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development
(LIPPINCOTT WILLIAMS & WILKINS, 2016)Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook ...