A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

We report a patient with autism and cleft lip and palate carrying a de novo heterozygous AUTS2 mutation, c.1464_1467del ACTC (p.Tyr488*). Although the causal relationship between cleft lip and palate and this mutation is unclear, this case report may expand the clinical phenotype of AUTS2 syndrome.

Guardat en:
Dades bibliogràfiques
Publicat a:Clin Case Rep
Autors principals: Saeki, Saki, Enokizono, Takashi, Imagawa, Kazuo, Fukushima, Hiroko, Kajikawa, Daigo, Sakai, Aiko, Tanaka, Mai, Ohto, Tatsuyuki, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kenjiro, Kosaki, Takada, Hidetoshi
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878208/
https://ncbi.nlm.nih.gov/pubmed/31788251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2377
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