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pro vyhledávání: '"Joan Sabrià Bach"'
Autor:
Africa Pertierra Cortada, Jordi Clotet Caba, Stephanie Hadley, Joan Sabrià Bach, Martin Iriondo Sanz, Marta Camprubí Camprubí
Publikováno v:
European Journal of Pediatrics.
Autor:
Montserrat Milà Recasens, Montserrat Izquierdo Renau, Josep Maria Martínez Crespo, Joan Sabrià Bach, Cristina Molinet Coll, Ana Alarcón Allen, Olga Gómez Del Rincón, David Monk
Publikováno v:
Journal of Clinical Ultrasound. 49:498-501
Kagami-Ogata syndrome (KOS14) is a rare congenital disorder associated with defective genomic imprinting of the chromosome 14q32 domain. Typical features include polyhydramnios, small and bell-shaped thorax, coat-hanger ribs, dysmorphic facial featur