Bpes, Type I, Autosomal Recessive

MedGen UID:: 369659
•Concept ID:: C1970106
•: Disease or Syndrome

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

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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

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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)

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Bpes, Type I, Autosomal Recessive

Recent clinical studies

Diagnosis

Therapy

Prognosis

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