Yazar "Akyigit, Fatma" için listeleme

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Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development

Ozer, Leyla; Unsal, Evrim; Aktuna, Suleyman; Baltaci, Volkan; Celikkol, Pelin; Akyigit, Fatma; Balci, Sevim (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 ...