Cognitive profile of a child with SOS1 mutation in Noonan syndrome
نویسندگان
چکیده
منابع مشابه
Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome
Introduction: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.Case Report: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. ...
متن کاملGrowth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily foc...
متن کاملSOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others identified SOS1 as a major gene underlying NS. Here, we explored further the spectrum of SOS1 mu...
متن کاملabnormal auditory brainstem response (abr) findings in a near-normal hearing child with noonan syndrome
introduction: noonan syndrome (ns) is a heterogeneous genetic disease that affects many parts of the body. it was named after dr. jacqueline anne noonan, a paediatric cardiologist.case report: we report audiological tests and auditory brainstem response (abr) findings in a 5-year old malay boy with ns. despite showing the marked signs of ns, the child could only produce a few meaningful words. ...
متن کاملKRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation
Patients This study consisted of 34 NS patients (22 males and 12 females) aged 0.1–34.5 years who met the diagnostic criteria proposed by van der Burgt et al. (8). All patients were found to have no discernible mutations in the coding exons 1– 15 of PTPN11 by direct sequencing; the clinical and molecular data in PTPN11 mutation positive patients have been reported previously (9). The karyotype ...
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ژورنال
عنوان ژورنال: Neurología (English Edition)
سال: 2018
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2016.01.005