Waardenburg–Shah syndrome: A case of neonatal palliative care

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

Pediatric Discovery ›› 2024, Vol. 2 ›› Issue (4) : e2506

PDF
Pediatric Discovery ›› 2024, Vol. 2 ›› Issue (4) : e2506 DOI: 10.1002/pdi3.2506
CASE REPORT

Waardenburg–Shah syndrome: A case of neonatal palliative care

Author information +
History +
PDF

Cite this article

Download citation ▾
Michael Colpani, Maria del Carmen Rodriguez Perez, Bruno Angelo Drera, Francesco Maria Risso. Waardenburg–Shah syndrome: A case of neonatal palliative care. Pediatric Discovery, 2024, 2(4): e2506 DOI:10.1002/pdi3.2506

登录浏览全文

4963

注册一个新账户 忘记密码

References

[1]

ReadAP, NewtonVE. Waardenburg syndrome. J Med Genet. 1997; 34(8):656-665.

[2]

NayakCS, Isaacson G. Worldwide distribution of waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003; 112(9 Pt 1):817-820.

[3]

WadhwaniM, GuptaYK, GangwaniK. Waardenburg Shah syndrome: a rare case from India. Oman J Ophthalmol. 2015; 8(1):74-75.

[4]

PingaultV, EnteD, Dastot-Le MoalF, GoossensM, MarlinS, BondurandN. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010; 31(4):391-406.

[5]

BaynashAG, HosodaK, GiaidA, et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994; 79(7):1277-1285.

[6]

BondurandN, Dastot-Le Moal F, StanchinaL, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007; 81(6):1169-1185.

[7]

YkS, RajP, ThakkarN. Perils of total colonic aganglionosis presenting in neonatal age. J Neonatal Surg. 2014; 3(3):28.

[8]

CelikN, Mazariegos GV, SoltysK, et al. Pediatric intestinal transplantation. Gastroenterol Clin North Am. 2018; 47(2):355-368.

[9]

ParraviciniE. Neonatal palliative care. Curr Opin Pediatr. 2017; 29(2):135-140.

RIGHTS & PERMISSIONS

2024 The Author(s). Pediatric Discovery published by John Wiley & Sons Australia, Ltd on behalf of Children’s Hospital of Chongqing Medical University.

AI Summary AI Mindmap
PDF

124

Accesses

0

Citation

Detail

Sections
Recommended

AI思维导图

/