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Article

[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2017

Li Deng-Feng, Lan Dan, Zhong Jing-Zi, Dewan Roma Kajal, Xie Yan-Shu, Yang Ying

Abstract excerpt

This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant...

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Share to Alkaline Phosphatase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28506345
PMCID: PMC7389124

Genes

ALPL

Variants

Provenance

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