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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Stavit A Shalev Author
Subjects of specialization
Affiliation
Phenylalanine
Haemek Genetic Institute, Haemek Medical Center, Afula, Israel
Biography
Stavit A Shalev intrested in the field PKU: Phenylketonuria; BH4: Tetrahydrobiopterin; NBS: Newborn Screening; PAH: Phenylalanine Hydroxylase; MS/MS: Tandem Mass Spectrometry; Phe: Phenylalanine; MRS: Magnetic Resonance Spectroscopy; MPKUS: Maternal PKU Syndrome; MRI: Magnetic Resonance Imaging; LNAA: Large Neutral Amino Acids from Haemek Genetic Institute, Haemek Medical Center, Afula, Israel
Publications
Review Article Subscription
Growth Abnormalities Resulting in Short Stature in Genetic Syndromes
Author(s): Lena Dain1 and Stavit A Shalev
Growth Abnormalities Resulting in Short Stature in Genetic Syndromes
Short stature is a common problem in children and adolescents, and has been reported in a wide variety of genetic syndromes. In this article, we provide an overview of clinical features typical to handful genetic syndromes in which short stature is a cardinal feature, and for which there is a well based core data. These disorders include chromosomal abnormalities such as Down and Turner syndromes, monogenic syndromes (Noonan syndrome and other selected syndromes caused by RAS/MAPK pathway genes, Cornelia de Lange syndrome and SHOX gene abnormalities) and epigenetic mechanism abnormalities, including Silver-R... view more»
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