Noonan Syndrome: Auxological and Endocrinological Investigation
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چکیده
منابع مشابه
Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome
We recently published growth references for Japanese individuals with Noonan syndrome (NS). However, it is uncertain whether these references can be used to evaluate the longitudinal growth of children with NS. In addition, these charts did not include detailed values suitable for clinical practice, and they did not include weight-for-height (WFH) charts. In the present study, we validated the ...
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متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
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ژورنال
عنوان ژورنال: Clinical Pediatric Endocrinology
سال: 1994
ISSN: 0918-5739,1347-7358
DOI: 10.1297/cpe.3.supple4_93