Bpes With Duane Retraction Syndrome

MedGen UID:: 349463
•Concept ID:: C1862264
•: Disease or Syndrome

Synonym:	BPES WITH DUANE RETRACTION SYNDROME

OMIM®:	110100

Recent clinical studies

Diagnosis

Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation.

Yang Y, Yang C, Zhu Y, Chen H, Zhao R, He X, Tao L, Wang P, Zhou L, Zhao L, Tu M, Dong Z, Chen H, Xie Z
Genomics 2014 Sep;104(3):170-6. Epub 2014 Jul 30 doi: 10.1016/j.ygeno.2014.07.010. PMID: 25086333

See all (1)

Therapy

Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.

Roth LW, Alvero R
J Reprod Med 2014 Jan-Feb;59(1-2):87-9. PMID: 24597293

See all (1)

Prognosis

Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.

Roth LW, Alvero R
J Reprod Med 2014 Jan-Feb;59(1-2):87-9. PMID: 24597293

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Bpes With Duane Retraction Syndrome

Recent clinical studies

Diagnosis

Therapy

Prognosis

Supplemental Content

Table of contents

Related information

Recent activity