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

Waardenburg-Shah syndrome: A case of neonatal palliative care

Michael Colpani  1 , Maria Del Carmen Rodriguez Perez  1 , Bruno Angelo Drera  2 , Francesco Maria Risso  1
Affiliations

Waardenburg-Shah syndrome: A case of neonatal palliative care

Michael Colpani et al. Pediatr Discov. .
No abstract available

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Pigmentation anomalies of the hair and eyebrows (piebaldism).
FIGURE 2
FIGURE 2
Barium enema, microcolon with considerable dilatation of the intestinal loops.
See this image and copyright information in PMC

References

    1. Read AP, Newton VE. Waardenburg syndrome. J Med Genet. 1997;34(8):656‐665. - PMC - PubMed
    1. Nayak CS, Isaacson G. Worldwide distribution of waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003;112(9 Pt 1):817‐820. - PubMed
    1. Wadhwani M, Gupta YK, Gangwani K. Waardenburg Shah syndrome: a rare case from India. Oman J Ophthalmol. 2015;8(1):74‐75. - PMC - PubMed
    1. Pingault V, Ente D, Dastot‐Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010;31(4):391‐406. - PubMed
    1. Baynash AG, Hosoda K, Giaid A, 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. - PubMed

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