Expanded Phenotypic Spectrum or Multiple Syndromes?
- PMID: 36588758
- PMCID: PMC9801313
- DOI: 10.1159/000526893
Expanded Phenotypic Spectrum or Multiple Syndromes?
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References
-
- Farajzadeh Valilou S, Alavi A, Pashaei M, Ghasemi Firouzabadi S, Shafeghati Y, Nozari A, et al. Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems. Mol Syndromol. 2020;11((2)):62–72. - PMC - PubMed
-
- Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MAM, et al. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Human Genet. 2007;15((11)):1132–8. - PubMed
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