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Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature.
Mazaheri, Mahta; Jahantigh, Hamid Reza; Yavari, Mahdie; Mirjalili, Seyed Reza; Vahidnezhad, Hassan.
Affiliation
  • Mazaheri M; Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. mazaheri54@yahoo.com.
  • Jahantigh HR; Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. mazaheri54@yahoo.com.
  • Yavari M; Dr. Mazaheri's Medical Genetics Lab, Yazd, Iran. mazaheri54@yahoo.com.
  • Mirjalili SR; Department of Veterinary Medicine, University of Bari Aldo Moro, Bari, Italy.
  • Vahidnezhad H; Interdisciplinary Department of Medicine - Section of Occupational Medicine, University of Bari, Bari, Italy.
Mol Biol Rep ; 49(5): 4135-4140, 2022 May.
Article in En | MEDLINE | ID: mdl-35445908
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Full text: 1 Database: MEDLINE Main subject: Pyloric Stenosis / Cutis Laxa / Heart Septal Defects, Atrial Limits: Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: Mol Biol Rep Year: 2022 Type: Article Affiliation country: Iran
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Pyloric Stenosis / Cutis Laxa / Heart Septal Defects, Atrial Limits: Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: Mol Biol Rep Year: 2022 Type: Article Affiliation country: Iran