Meacham Syndrome

Meacham Syndrome Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, meacham-winn-culler syndrome. Researches and researchers. Doctors, researchs, and experts related to meacham syndrome extracted from public data. meacham Syndrome Experts map

26 rows  · Dec 01, 2008  · Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Epidemiology Less than 15 patients have been reported worldwide.

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Meacham syndrome. A rare, sporadic, multiple malformation syndrome (omim:608978) characterised by male pseudohermaphroditism with abnormal internal female genitalia, comprising a uterus and double or septate vagina, complex congenital heart and diaphragmatic defects. Molecular pathology. Caused by defects of WTI, which encodes a transcription factor that plays an essential role in the normal …

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In 2 patients with Meacham syndrome, Suri et al. (2007) identified heterozygous mutations in the WT1 gene (R366W, 607102.0026 and R394W, 607102.0003); neither patient had congenital heart defects.DNA material from 6 other patients with this disorder was not available for testing. Suri et al. (2007) noted that both WT1 mutations had been identified in patients with Denys-Drash syndrome …

Gemcitabine nephrotoxicity and hemolytic uremic syndrome: report of 29 cases from … 2018;31:235–9. Meacham LR, Chow EJ, Ness KK, Kamdar KY, Chen Y, Yasui Y, et al. cardiovascular risk factors

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Disease – Meacham syndrome ))) Map to. UniProtKB (1) Reviewed (1) Swiss-Prot. Format. Definition. Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic …