Genes (Basel)
Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion.
Tan Q, Potter KJ, Burnett LC, Orsso CE, Inman M, Ryman DC, Haqq AM
We report a 17-year-old boy who met most of the major Prader-Willi syndrome (PWS) diagnostic criteria, including infantile hypotonia and poor feeding ...
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Source: PubMed
Arch Argent Pediatr
Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome.
Méndez-Rosado LA, García D, Molina-Gamboa O, García A, de León N, Lantigua-Cruz A, Liehr T
The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The o ...
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Source: PubMed
AACE Clin Case Rep
CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT.
Monai E, Johansen A, Clasen-Linde E, Rajpert-De Meyts E, Skakkebæk NE, Main KM, Jørgensen A, Jensen RB
Prader-Willi syndrome (PWS) is a rare genetic neuroendocrine disorder characterized by hypotonia, obesity, short stature, and mental retardation. Inco ...
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Source: PubMed
Orphanet J Rare Dis
Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.
Yang L, Zhou Q, Ma B, Mao S, Dai Y, Zhu M, Zou C
Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosom ...
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Source: PubMed
