Literature DB >> 4050863

Report of a case and further delineation of the SHORT syndrome.

H V Toriello, S Wakefield, K Komar, J V Higgins, D F Waterman.   

Abstract

We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.

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Year:  1985        PMID: 4050863     DOI: 10.1002/ajmg.1320220214

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

Review 1.  The SHORT syndrome: further delineation and natural history.

Authors:  A H Lipson; C Cowell; R J Gorlin
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

2.  Activation of PI3K signaling prevents aminoglycoside-induced hair cell death in the murine cochlea.

Authors:  Azadeh Jadali; Kelvin Y Kwan
Journal:  Biol Open       Date:  2016-06-15       Impact factor: 2.422

  2 in total

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