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A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.
Amano, Naoko; Kitoh, Hiroshi; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu.
Affiliation
  • Amano N; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Kitoh H; Department of Pediatrics, Saitama City Hospital, Saitama, Japan.
  • Narumi S; Department of Orthopedics Surgery, Aichi Children's Health and Medical Center, Obu, Japan.
  • Nishimura G; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Hasegawa T; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
Clin Pediatr Endocrinol ; 29(3): 99-103, 2020.
Article in En | MEDLINE | ID: mdl-32694885
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Pediatr Endocrinol Year: 2020 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Pediatr Endocrinol Year: 2020 Document type: Article Affiliation country: