Related content

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

By Maldergem L.V.  

Human Molecular Genetics, Vol. 10, Iss. 15, 2001-07 ,pp. : 1591-1600

Oxford University Press

Access to resources Recommend Favorite

Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development

By Moumn Lara   Dipietromaria Aurlie   Batista Frank   Kocer Ayhan   Fellous Marc   Pailhoux Eric   Veitia Reiner A.  

Human Molecular Genetics, Vol. 17, Iss. 7, 2007-12 ,pp. : 1010-1019

Oxford University Press

Access to resources Recommend Favorite

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

By Bachetti Tiziana   Matera Ivana   Borghini Silvia   Duca Marco Di   Ravazzolo Roberto   Ceccherini Isabella  

Human Molecular Genetics, Vol. 14, Iss. 13, 2005-07 ,pp. : 1815-1824

Oxford University Press

Access to resources Recommend Favorite

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

By Budny Bartlomiej   Chen Wei   Omran Heymut   Fliegauf Manfred   Tzschach Andreas   Wisniewska Marzena   Jensen Lars   Raynaud Martine   Shoichet Sarah   Badura Magda   Lenzner Steffen   Latos-Bielenska Anna   Ropers Hans-Hilger  

Human Genetics, Vol. 120, Iss. 2, 2006-09 ,pp. : 171-178

Springer Publishing Company

Access to resources Recommend Favorite

Involvement of FOXL2 and RSPO1 in Ovarian Determination, Development, and Maintenance in Mammals

By  

Sexual Development, Vol. 10, Iss. 4, 2016-09 ,pp. : 167-184

Karger

Access to resources Recommend Favorite