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Target Concepts:
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Query: UMLS:C0004352 (
autism
)
32,579
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Myhre syndrome
(MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of
Myhre syndrome
, associated with
autism
and peculiar skin histological findings.
...
PMID:Case of Myhre syndrome with autism and peculiar skin histological findings. 1156 25
Myhre syndrome
(MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed.
Autism
has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous cases. We report a case of a 25-year-old man with a pathogenic heterozygous SMAD4 missense mutation affecting residue Arg
496
(SMAD4:p.Arg496Cys). Clinical findings are consistent with MS, commorbid with affective disorder and High Functioning
Autism
Spectrum Disorder confirmed by a standardized assessment procedure. The thorough clinical assessment of cases with syndromes such as MS can extend our knowledge on both the phenotypic characteristics of the syndrome and the genetic basis of
autism
.
J
Autism
Dev Disord 2019 Jul
PMID:Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome. 3096 16
