Results 241 to 250 of about 663,566 (334)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto   +5 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak   +3 more
wiley   +1 more source

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