A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.

Tajima, Toshihiro; Nakamura, Akie; Ishizu, Katsura

Tajima, Toshihiro; Nakamura, Akie; Ishizu, Katsura.

Affiliation

Tajima T; Department of Pediatrics, Hokkaido University School of Medicine, Sapporo 060-8635, Japan. tajeari@med.hokudai.ac.jp

Endocr J ; 60(2): 245-9, 2013.

Article in En | MEDLINE | ID: mdl-23363888

Subject(s)

Congenital Hypothyroidism/genetics; Immunoglobulins/genetics; Membrane Proteins/genetics; Mutation; Adolescent; Adolescent Development; Child; Child Development; Codon, Nonsense; Congenital Hypothyroidism/metabolism; Congenital Hypothyroidism/physiopathology; Exons; Humans; Immunoglobulins/chemistry; Immunoglobulins/metabolism; Infant, Newborn; Japan; Male; Membrane Proteins/chemistry; Membrane Proteins/metabolism; Mutagenesis, Insertional; Pituitary Gland/physiopathology; Thyroid Gland/physiopathology

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Collection: 01-internacional Database: MEDLINE Main subject: Immunoglobulins / Congenital Hypothyroidism / Membrane Proteins / Mutation Type of study: Prognostic_studies / Screening_studies Limits: Adolescent / Child / Humans / Male / Newborn Country/Region as subject: Asia Language: En Journal: Endocr J Journal subject: ENDOCRINOLOGIA Year: 2013 Document type: Article Affiliation country: Japan Country of publication: Japan

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