A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10

QJM. 2024 Apr 12;117(4):302-303. doi: 10.1093/qjmed/hcad289.

Authors

Y Jia^{1

2}, W Liu^{1

2}, J Wang^{1

2}, R Zhang^{1

2}, M Li³, S Liu^{1

2}

Affiliations

¹ Medical Genetic Department, The Affiliated Hospital of Qingdao University, NO.16 Jiang Su Road, Qingdao 266071, China.
² Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, NO.16 Jiang Su Road, Qingdao 266071, China.
³ Department of Urology, Qingdao Municipal Hospital Group, NO.5 Middle Dong Hai Road, Qingdao 266071, China.

PMID: 38180891
DOI: 10.1093/qjmed/hcad289

No abstract available

Publication types

Case Reports

MeSH terms

Cyclin-Dependent Kinases
Homozygote
Humans
Hydrocephalus* / diagnostic imaging
Hydrocephalus* / genetics
Intercellular Signaling Peptides and Proteins
Multicystic Dysplastic Kidney*
Mutation

Substances

CDK10 protein, human
Cyclin-Dependent Kinases
Intercellular Signaling Peptides and Proteins

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