Atr X Syndrome Atr X 증후군

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10.26180/15035007.V1

ATR-X syndrome is a Disorder of Sex Development (aka ‘intersex’) that affects males and is characterized by alpha thalassemia, intellectual disability, and genital anomalies (80%) including small testes.

ATR-X 증후군은 남성에게 영향을 미치는 성 발달 장애(일명 '간성')이며 알파 지중해빈혈, 지적 장애 및 작은 고환을 포함한 생식기 기형(80%)이 특징입니다.

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10.1007/s00439-021-02361-5

ATR-X syndrome is caused by germline variants in the ATRX gene.

ATR-X 증후군은 ATRX 유전자의 생식계열 변이에 의해 발생합니다.

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Keywords related to Atr

Atr Chk1 Pathway Atr Ftir Microspectroscopy Atr Ftir Spectroscopy Atr Activator Atr Protein Atr 42 Atr Activation Atr Ftir Atr Ftir Spectrum Atr Inhibitor Atr Ir Spectroscopy Atr Spectroscopy Atr Ft Ir Atr Inhibitors Atr Signaling Atr Ftir Spectra Atr Para Atr Kinase Atr Inhibition Atr Ftir Spectroscopic Explore More

Keywords related to Syndrome

Ortner Syndrome Leg Syndrome Post Concussion Syndrome Skin Syndrome Dubin Johnson Syndrome Shoulder Hand Syndrome Crouzon Syndrome Romberg Syndrome Coffin Lowry Syndrome Sanfilippo Syndrome Myoclonus Dystonia Syndrome Sezary Syndrome Spine Syndrome Periodic Syndrome Gradenigo Syndrome Valve Syndrome Endothelial Syndrome Parsonage Turner Syndrome Antiphospholipid Syndrome Wolfram Like Syndrome Sinus Syndrome Laere Syndrome Virus Syndrome Jalili Syndrome Satb2 Associated Syndrome Dysregulation Syndrome Rhupus Syndrome Twiddlers Syndrome Craniofrontonasal Syndrome Netherton Syndrome Viral Syndrome Fai Syndrome Ehlers Danlos Syndrome Nephrogenic Syndrome Tourettes Syndrome Pulmonary Syndrome Turners Syndrome Exfoliation Syndrome Weiss Kruszka Syndrome Townes Brocks Syndrome Cowden Syndrome Russell Syndrome Rett Syndrome Malformation Syndrome Size Syndrome Wolf Hirschhorn Syndrome Disorder Syndrome Encephalopathy Syndrome Building Syndrome Nager Syndrome Explore More