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・ ATPase, Na+/K+ transporting, alpha 1
・ ATPC RNA motif
・ ATPCO
・ ATPIF1
・ ATP–ADP translocase
・ Atqasuk Edward Burnell Sr. Memorial Airport
・ Atqasuk, Alaska
・ ATR
・ ATR (aircraft manufacturer)
・ ATR (company)
・ ATR (song)
・ ATR (TV channel)
・ ATR 42
・ ATR 72
・ Atr Afshan
ATR-16 syndrome
・ ATR.1 certificate
・ Atra
・ Atra Chal
・ Atra Mors
・ Atra, Estonia
・ Atra-Hasis
・ Atrab
・ Atrabad
・ Atrabad-e Olya
・ Atrabad-e Sofla
・ Atracción x4
・ Atrachea
・ Atrachea ochrotica
・ Atraco a las tres


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ATR-16 syndrome : ウィキペディア英語版
ATR-16 syndrome
ATR-16 syndrome, also called Alpha-Thalassemia-Intellectual disability syndrome is a rare disease characterized by monosomy on part of chromosome 16.
== Signs and symptoms ==
ATR-16 syndrome affects the blood, development, and brain; symptoms vary based on the specific genes deleted on chromosome 16. Because it is so rare, it is difficult to determine the "core" symptoms of the disease. People with ATR-16 have alpha-thalassemia, a blood disorder where there is less normal hemoglobin in the blood than there should be, and the red blood cells are smaller than they should be (microcytic anemia). Affected children have various characteristic physical features, including clubfoot, "locked" little fingers, microcephaly (small head), hypertelorism (widely spaced eyes), broad, prominent nose bridge, downward-slanted palpebral fissures, small ears, retrognathia, and short neck. Children with ATR-16 syndrome also have mild to moderate intellectual disabilities, developmental delays/growth delays, and speech delays. Some children with ATR-16 have seizures, cryptorchidism (undescended testes), or hypospadias.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「ATR-16 syndrome」の詳細全文を読む



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