Literature DB >> 12599197

Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease.

Gen Nishimura, Tomonobu Hasegawa, Motoko Fujino, Naoaki Hori, Yukiharu Tomita.   

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Year:  2003        PMID： 12599197     DOI： 10.1002/ajmg.a.10230

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


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  4 in total

1.  Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?

Authors:  Ralph Rahme; Louis Crevier; Josée Dubois; Claude Mercier
Journal:  Childs Nerv Syst       Date:  2010-07       Impact factor: 1.475

2.  Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

Authors:  Duane L Guernsey; Haiyan Jiang; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Mathew Nightingale; Andrea L Rideout; Sylvie Provost; Karen Bedard; Andrew Orr; Marie-Pierre Dubé; Mark Ludman; Mark E Samuels
Journal:  Am J Hum Genet       Date:  2009-07-02       Impact factor: 11.025

3.  Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Authors:  Alistair T Pagnamenta; Malcolm F Howard; Samantha J L Knight; David A Keays; Gerardine Quaghebeur; Jenny C Taylor; Usha Kini
Journal:  Clin Case Rep       Date:  2016-08-23

Review 4.  Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Authors:  Michael B Bober; Andrew P Jackson
Journal:  Curr Osteoporos Rep       Date:  2017-04       Impact factor: 5.096
  4 in total

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