X-linked elliptocytosis with impaired growth is related to mutated AMMECR1

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• 作者：Lina Basel-Vanagaite^a ; ^b ; ^c ; ^d ; ^{basel@post.tau.ac.il} ; Nir Pillar^h ; Ofer Isakov^h ; Pola Smirin-Yosef^e ; Irina Lagovsky^b ; ^d ; Naama Orenstein^a ; ^c ; Mali Salmon-Divon^e ; Hannah Tamary^b ; ^f ; Tami Zaft^a ; Lily Bazak^a ; Joseph Meyerovitch^b ; ^g ; Tal Pelli^h ; Shay Botchan^h ; Luba Farberov^h ; Daphna Weissglas-Volkov^h ; Noam Shomron^h ; ^{nshomron@post.tau.ac.il}
• 关键词：X-linked ; Elliptocytosis ; AMMECR1 gene ; Genomics
• 刊名：Gene
• 出版年：2017
• 出版时间：30 March 2017
• 年：2017
• 卷：606
• 期：Complete
• 页码：47-52
• 全文大小：899 K
• 卷排序：606

文摘

Family with X-linked recessive syndrome caused by mutated AMMECR1 Clinical features include elliptocytosis, midface hypoplasia, short stature, hearing loss. AMMECR1 is localized in the critical region of contiguous deletion syndrome on Xq22.3. Region implicated in Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis