De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

Author:

Burrage Lindsay C.,Charng Wu-Lin,Eldomery Mohammad K.,Willer Jason R.,Davis Erica E.,Lugtenberg Dorien,Zhu Wenmiao,Leduc Magalie S.,Akdemir Zeynep C.,Azamian Mahshid,Zapata Gladys,Hernandez Patricia P.,Schoots Jeroen,de Munnik Sonja A.,Roepman Ronald,Pearring Jillian N.,Jhangiani Shalini,Katsanis Nicholas,Vissers Lisenka E.L.M.,Brunner Han G.,Beaudet Arthur L.,Rosenfeld Jill A.,Muzny Donna M.,Gibbs Richard A.,Eng Christine M.,Xia Fan,Lalani Seema R.,Lupski James R.,Bongers Ernie M.H.F.,Yang Yaping

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference36 articles.

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2. [Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)];Meier;Helv. Paediatr. Acta,1959

3. Meier-Gorlin syndrome: report of eight additional cases and review;Bongers;Am. J. Med. Genet.,2001

4. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder;de Munnik;Am. J. Med. Genet. A.,2012

5. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis;de Munnik;Eur. J. Hum. Genet.,2012

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