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A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
Young, Cameron; Batkovskyte, Dominyka; Kitamura, Miyuki; Shvedova, Maria; Mihara, Yutaro; Akiba, Jun; Zhou, Wen; Hammarsjö, Anna; Nishimura, Gen; Yatsuga, Shuichi; Grigelioniene, Giedre; Kobayashi, Tatsuya.
Affiliation
  • Young C; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
  • Kitamura M; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
  • Shvedova M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Mihara Y; Department of Pathology, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
  • Akiba J; Department of Diagnostic Pathology, Kurume University Hospital, Kurume, Fukuoka 830-0011, Japan.
  • Zhou W; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
  • Nishimura G; Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm 17176, Sweden.
  • Yatsuga S; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.
  • Grigelioniene G; Center for Intractable Disease, Saitama Medical University Hospital, Saitama, Japan.
  • Kobayashi T; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
HGG Adv ; 4(1): 100148, 2023 01 12.
Article in En | MEDLINE | ID: mdl-36299998
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Mitochondrial Membranes Limits: Animals Language: En Journal: HGG Adv Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Mitochondrial Membranes Limits: Animals Language: En Journal: HGG Adv Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos