Confirming TBC1D32-related ciliopathy in humans

Am J Med Genet A. 2020 Aug;182(8):1985-1987. doi: 10.1002/ajmg.a.61717. Epub 2020 Jun 23.

Authors

Nada Alsahan¹, Fowzan S Alkuraya^{2

3}

Affiliations

¹ Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
³ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

PMID: 32573025
DOI: 10.1002/ajmg.a.61717

No abstract available

Keywords: anophthalmia; hydrocephalus; midline; single nostril.

Publication types

Letter

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Child
Child, Preschool
Ciliopathies / diagnosis*
Ciliopathies / diagnostic imaging
Ciliopathies / genetics
Ciliopathies / pathology
Cleft Palate / diagnosis*
Cleft Palate / diagnostic imaging
Cleft Palate / genetics
Cleft Palate / pathology
Female
Fetus / diagnostic imaging
Fetus / pathology
Humans
Hydrocephalus / diagnosis
Hydrocephalus / diagnostic imaging
Hydrocephalus / genetics
Male
Orofaciodigital Syndromes / diagnosis*
Orofaciodigital Syndromes / diagnostic imaging
Orofaciodigital Syndromes / genetics
Orofaciodigital Syndromes / pathology
Prenatal Diagnosis / methods

Substances

Adaptor Proteins, Signal Transducing
TBC1D32 protein, human