PMID: 42065149

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review.

Cui Xuxia, Zhong Yajing, Yin Chongjuan

Medicine · 2026

Vol. 105, Issue 18, pp. e48340

This entry links to third-party literature. For research use only.

HumansMaleInfantVitamin B 12 DeficiencyHomocystinuriaHydrocephalusPulmonary Arterial HypertensionVitamin B 12Heterozygote

For research use only. This index links to third-party literature. Nothing here constitutes medical advice.

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A&#x2005;>&#x2005;G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review.