A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV

Hussain, S., Nawaz, S., Khan, H., Acharya, A., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. Annals of Human Genetics, 86(6), 291–296. Portico. https://doi.org/10.1111/ahg.12462
Authors:
Shabir Hussain
Shoaib Nawaz
Hammal Khan
Anushree Acharya
Isabelle Schrauwen
Wasim Ahmad
Suzanne M Leal
Affiliated Authors:
Anushree Acharya
Isabelle Schrauwen
Suzanne M Leal
Columbia Affiliation:
Subjects:
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Hedgehog Signaling in Development and Cancer (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Ciliopathies (MeSH)
Orofaciodigital Syndromes (MeSH)
Author Keywords:
orofaciodigital syndrome
scaphocephaly
seizures
tctn3
elink
Publication Type:
Article
Unique ID:
10.1111/ahg.12462
PMID:
36039988
DOI:
10.1111/ahg.12462
Journal:
Annals of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: