Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
التفاصيل البيبلوغرافية
العنوان:
Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions