Yu. Sun, et.al., Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement., Nature genetics, 2012, 44

http://rdf.ncbi.nlm.nih.gov/pubmed/23143598

Yu. Sun, et.al., Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement., Nature genetics, 2012, 44

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal pituitary gland morphology_Igsf1<tm1Zuk>/Y
  http://metadb.riken.jp/0000633EI129S6SvEv129S7SvEvBrdorI129S7SvEvBrdC57BL6JIgsf1tm1ZukYIgsf1tm1Zuk
• decreased activity of thyroid_Igsf1<tm1Zuk>/Y
  http://metadb.riken.jp/0003503EI129S6SvEv129S7SvEvBrdorI129S7SvEvBrdC57BL6JIgsf1tm1ZukYIgsf1tm1Zuk
• increased body weight_Igsf1<tm1Zuk>/Y
  http://metadb.riken.jp/0001260EI129S6SvEv129S7SvEvBrdorI129S7SvEvBrdC57BL6JIgsf1tm1ZukYIgsf1tm1Zuk
• decreased circulating triiodothyronine level_Igsf1<tm1Zuk>/Y
  http://metadb.riken.jp/0005479EI129S6SvEv129S7SvEvBrdorI129S7SvEvBrdC57BL6JIgsf1tm1ZukYIgsf1tm1Zuk
• decreased circulating thyroid-stimulating hormone level_Igsf1<tm1Zuk>/Y
  http://metadb.riken.jp/0005119EI129S6SvEv129S7SvEvBrdorI129S7SvEvBrdC57BL6JIgsf1tm1ZukYIgsf1tm1Zuk
• decreased thyroid-stimulating hormone level_Igsf1<tm1Zuk>/Y
  http://metadb.riken.jp/0005134EI129S6SvEv129S7SvEvBrdorI129S7SvEvBrdC57BL6JIgsf1tm1ZukYIgsf1tm1Zuk