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Waardenburg-Shah syndrome: A case of neonatal palliative care.

作者信息

Colpani Michael, Rodriguez Perez Maria Del Carmen, Drera Bruno Angelo, Risso Francesco Maria

机构信息

Neonatology and Neonatal Intensive Care Unit Children's Hospital-ASST Spedali Civili Brescia Italy.

Neonatal Pathology Cremona Hospital - ASST Cremona Cremona Italy.

出版信息

Pediatr Discov. 2024 Sep 24;2(4):e2506. doi: 10.1002/pdi3.2506. eCollection 2024 Dec.

DOI:10.1002/pdi3.2506

PMID:40626131

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12118289/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13bb/12118289/fa71fb11ff99/PDI3-2-e2506-g001.jpg

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本文引用的文献

Pediatric Intestinal Transplantation.

Gastroenterol Clin North Am. 2018 Jun;47(2):355-368. doi: 10.1016/j.gtc.2018.01.007. Epub 2018 Apr 4.

Neonatal palliative care.

Curr Opin Pediatr. 2017 Apr;29(2):135-140. doi: 10.1097/MOP.0000000000000464.

Perils of total colonic aganglionosis presenting in neonatal age.

J Neonatal Surg. 2014 Jul 10;3(3):28. eCollection 2014 Jul-Sep.

Waardenburg Shah syndrome: A rare case from India.

Oman J Ophthalmol. 2015 Jan-Apr;8(1):74-5. doi: 10.4103/0974-620X.149899.

Review and update of mutations causing Waardenburg syndrome.

Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22.

Worldwide distribution of Waardenburg syndrome.

Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):817-20. doi: 10.1177/000348940311200913.

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J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656.

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.

Cell. 1994 Dec 30;79(7):1277-85. doi: 10.1016/0092-8674(94)90018-3.

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本文引用的文献

Pediatric Intestinal Transplantation.

Gastroenterol Clin North Am. 2018 Jun;47(2):355-368. doi: 10.1016/j.gtc.2018.01.007. Epub 2018 Apr 4.

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Curr Opin Pediatr. 2017 Apr;29(2):135-140. doi: 10.1097/MOP.0000000000000464.

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J Neonatal Surg. 2014 Jul 10;3(3):28. eCollection 2014 Jul-Sep.

Waardenburg Shah syndrome: A rare case from India.

Oman J Ophthalmol. 2015 Jan-Apr;8(1):74-5. doi: 10.4103/0974-620X.149899.

Review and update of mutations causing Waardenburg syndrome.

Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

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Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):817-20. doi: 10.1177/000348940311200913.

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J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656.

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Cell. 1994 Dec 30;79(7):1277-85. doi: 10.1016/0092-8674(94)90018-3.