Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660F...
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| Auteurs principaux: | , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
SAGE Publishing
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/5c670dfe6da54ef7bc68e6fb0e7b9143 |
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