A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures

Publisher： John Wiley & Sons Inc

E-ISSN： 1552-4833|167|8|1842-1850

ISSN： 1552-4825

Source： American Journal Of Medical Genetics Part A, Vol.167, Iss.8, 2015-08, pp. : 1842-1850

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 11, 2015-11 ,pp. : 2731-2736

John Wiley & Sons Inc

Access to resources Recommend Favorite

A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

By  

American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2538-2542

John Wiley & Sons Inc

Access to resources Recommend Favorite

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia

By  

Molecular Syndromology, Vol. 4, Iss. 5, 2013-06 ,pp. : 250-254

Karger

Access to resources Recommend Favorite

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2042-2051

John Wiley & Sons Inc

Access to resources Recommend Favorite

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression

By  

Molecular Syndromology, Vol. 1, Iss. 1, 2010-02 ,pp. : 46-57

Karger

Access to resources Recommend Favorite