Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

Balasubramanian, Ravikumar; Chew, Sheena; MacKinnon, Sarah E; Kang, Peter B; Andrews, Caroline; Chan, Wai-Man; Engle, Elizabeth C

Balasubramanian, Ravikumar; Chew, Sheena; MacKinnon, Sarah E; Kang, Peter B; Andrews, Caroline; Chan, Wai-Man; Engle, Elizabeth C.

Affiliation

Balasubramanian R; Harvard Reproductive Endocrine Sciences Center (R.B.), The Reproductive Endocrine Unit of the Department of Medicine (R.B.), Massachusetts General Hospital, Boston, Massachusetts 02114; Harvard Medical School (R.B., S.C., P.B.K., C.A., W.-M.C., E.C.E.), Boston, Massachusetts 02115; Department of Neurology (S.C., P.B.K., C.A., W.-M.C., E.C.E.), Kirby Neurobiology Center (S.C., C.A., W.-M.C., E.C.E.), and Department of Ophthalmology (S.E.M., E.C.E.), Boston Children's Hospital, Boston, Massachuset

J Clin Endocrinol Metab ; 100(3): E473-7, 2015 Mar.

Article in En | MEDLINE | ID: mdl-25559402

Subject(s)

Endocrine System Diseases/genetics; Tubulin/genetics; Adult; Aged; Amino Acid Substitution; Child; Child, Preschool; Developmental Disabilities/genetics; Eye Diseases, Hereditary/genetics; Female; Fibrosis; Glutamic Acid/genetics; Humans; Kallmann Syndrome/genetics; Lysine/genetics; Male; Ophthalmoplegia; Pedigree; Phenotype; Syndrome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Endocrine System Diseases Type of study: Risk_factors_studies Limits: Adult / Aged / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 2015 Document type: Article

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