Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc-Reference-Cited by-同舟云学术

Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc

Published:2019-07-05 Issue:12 Volume:35 Page:1037-1039
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Al-Jaroudi Dania¹²,Enabi Saed³,AlThagafi Malak Sameer⁴⁵⁶

Affiliation:

1. Department of Obstetrics and Gynecology, King Fahad Medical City, Riyadh, Saudi Arabia;

2. Reproductive Endocrine and Infertility Medicine Department, King Fahad Medical City, Riyadh, Saudi Arabia;

3. Suliaman Al-Rajhi College, Al-Qasseem, Riyadh, Saudi Arabia;

4. Saudi Diagnostic Lab Molecular Diagnostic, King Faisal Specialist Hospital International, Riyadh, Saudi Arabia;

5. Saudi Human Genome Lab at King Fahad Medical City (KFMC), National Genomics Center, Life Science and Environmental Institute, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia;

6. Pathology Department, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA

Publisher

Informa UK Limited

Subject

Obstetrics and Gynaecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2019.1637407

Reference27 articles.

1. Fertility and infertility: Definition and epidemiology

2. Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

3. A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

4. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

5. Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

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