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5 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

4. 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 5. 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

5 in total