Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development
Ozer L, Unsal E, Aktuna S, Baltaci V, Celikkol P, Akyigit F, Sen A, Ayvaz O, Balci S. Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development. Clinical Dysmorphology 2016, 25: 91-97. PMID: 27100822, DOI: 10.1097/mcd.0000000000000132.Peer-Reviewed Original ResearchConceptsAbsent breast developmentBreast developmentMandibuloacral dysplasiaSkeletal changesProgressive skeletal changesMAD patientsSevere skeletal changesAutosomal recessive disorderFemale patientsSkin changesTurkish patientsPatientsLMNA gene mutationsProminent eyesSkeletal anomaliesGene mutationsRecessive disorderClavicular hypoplasiaLMNA mutationsType B.DysplasiaLipodystrophyT mutationCranial suturesLMNA gene