Literature DB >> 15211667

Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease.

Peter Kannu, Patrick Kelly, Salim Aftimos.   

Abstract

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Year:  2004        PMID： 15211667     DOI： 10.1002/ajmg.a.30086

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


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  7 in total

1.  Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.

Authors:  Hamdan Alrajhi; Jubara Alallah; Aiman Shawli; Khalid Alghamdi; Fahad Hakami
Journal:  BMJ Case Rep       Date:  2019-05-30

2.  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

3.  Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

Authors:  Gordana Juric-Sekhar; Raj P Kapur; Ian A Glass; Mitzi L Murray; Shawn E Parnell; Robert F Hevner
Journal:  Acta Neuropathol       Date:  2010-09-21       Impact factor: 17.088

4.  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

5.  Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

Authors:  Eva Müller; Desiree Dunstheimer; Jürgen Klammt; Daniela Friebe; Wieland Kiess; Jürgen Kratzsch; Tassilo Kruis; Sandy Laue; Roland Pfäffle; Tillmann Wallborn; Peter H Heidemann
Journal:  PLoS One       Date:  2012-05-31       Impact factor: 3.240

6.  Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient.

Authors:  Arslan Terlemez; Mustafa Altunsoy; Hakki Celebi
Journal:  J Istanb Univ Fac Dent       Date:  2015-01-31

Review 7.  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
  7 in total

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