A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
Work
Year: 2022
Type: article
Abstract: Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the c... more
Source: Annals of Human Genetics
Institutions Quaid-i-Azam University, COMSATS University Islamabad, Columbia University Irving Medical Center
Cites: 34
Cited by: 3
Related to: 10
FWCI: 0.628
Citation percentile (by year/subfield): 82.71
Subfield: Genetics
Domain: Life Sciences
Sustainable Development Goal Good health and well-being
Open Access status: hybrid
APC paid (est): $3,040