Homozygous 11p15-p14 Deletion Syndrome
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1012-1
Reference4 articles.
1. Al Mutair AN, Brusgaard K, Bin-Abbas B, Hussain K, Felimban N, Al Shaikh A et al (2013) Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes. Diabetes Care 36(3):557–561. https://doi.org/10.2337/dc12-1174
2. Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ et al (2000) A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 26(1):56–60. https://doi.org/10.1038/79178
3. Hussain KB-GM, Blaydon D, Lindley KJ, Thompson DA, Kriss T, Rajput K, Ramadan DG, Al-Mazidi Z, Cosgrove KE, Dunne MJ, Aynsley-Green A (2004) Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p. J Pediatr Endocrinol Metab 17(12):1613–1622. https://doi.org/10.1515/JPEM.2004.17.12.1613
4. Zenker M, Mohnike K, Palm K (2023) Syndromic forms of congenital hyperinsulinism. Front Endocrinol 14:1013874
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