Literature DB >> 14556256

Moebius sequence and hypogonadotrophic hypogonadism.

Juliet E Jennings1, Colm Costigan, William Reardon.   

Abstract

A distinct form of Moebius sequence is associated with hypogonadotrophic hypogonadism. There have been five such cases to date. We now add a further case with detailed neurologic, endocrine, and autopsy findings and offer a hypothesis drawing parallels with the already established basis of hypogonadotrophic hypogonadism in the X-linked form of Kallman syndrome. Copyright 2003 Wiley-Liss, Inc.

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Year:  2003        PMID: 14556256     DOI: 10.1002/ajmg.a.20500

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  5 in total

Review 1.  Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.

Authors:  Sameep Kadakia; Samuel N Helman; Thomas Schwedhelm; Masoud Saman; Babak Azizzadeh
Journal:  Oral Maxillofac Surg       Date:  2015-02-10

2.  A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Authors:  Sheena Chew; Ravikumar Balasubramanian; Wai-Man Chan; Peter B Kang; Caroline Andrews; Bryn D Webb; Sarah E MacKinnon; Darren T Oystreck; Jessica Rankin; Thomas O Crawford; Michael Geraghty; Scott L Pomeroy; William F Crowley; Ethylin Wang Jabs; David G Hunter; Patricia E Grant; Elizabeth C Engle
Journal:  Brain       Date:  2013-01-31       Impact factor: 13.501

3.  Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.

Authors:  Mark J McCabe; Carles Gaston-Massuet; Vaitsa Tziaferi; Louise C Gregory; Kyriaki S Alatzoglou; Massimo Signore; Eduardo Puelles; Dianne Gerrelli; I Sadaf Farooqi; Jamal Raza; Joanna Walker; Scott I Kavanaugh; Pei-San Tsai; Nelly Pitteloud; Juan-Pedro Martinez-Barbera; Mehul T Dattani
Journal:  J Clin Endocrinol Metab       Date:  2011-08-10       Impact factor: 5.958

4.  Moebius-Poland syndrome and hypogonadotropic hypogonadism.

Authors:  Diego López de Lara; Jaime Cruz-Rojo; Jaime Sánchez del Pozo; Maria Elena Gallego Gómez; Gregorio Lledó Valera
Journal:  Eur J Pediatr       Date:  2007-03-31       Impact factor: 3.183

5.  Moebius syndrome: clinical features, diagnosis, management and early intervention.

Authors:  Odoardo Picciolini; Matteo Porro; Elisa Cattaneo; Silvia Castelletti; Giuseppe Masera; Fabio Mosca; Maria Francesca Bedeschi
Journal:  Ital J Pediatr       Date:  2016-06-03       Impact factor: 2.638

  5 in total

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