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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.
Belanger Deloge R, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Belanger Deloge R, et al. Eur J Hum Genet. 2023 Mar;31(3):296-303. doi: 10.1038/s41431-022-01255-y. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474027 Free PMC article.
These data suggest that ES should be considered for all individuals with syndromic ARMs in whom a molecular diagnosis has not been made, and that ARMs represent a low penetrance phenotype associated with Helsmoortel-van der Aa syndrome, Bardet-Biedl syndrome …
These data suggest that ES should be considered for all individuals with syndromic ARMs in whom a molecular diagnosis has not been made, and …
Definable somatic disorders in overweight children and adolescents.
Reinehr T, Hinney A, de Sousa G, Austrup F, Hebebrand J, Andler W. Reinehr T, et al. J Pediatr. 2007 Jun;150(6):618-22, 622.e1-5. doi: 10.1016/j.jpeds.2007.01.042. J Pediatr. 2007. PMID: 17517246
RESULTS: Endocrine or syndromal disorders were diagnosed in 13 children (<1%; 4 with hypothyroidism, 1 with Cushing's syndrome, 1 with growth hormone deficiency, 2 with pseudohypoparathyroidism, 1 with pseudopseudohypoparathyroidism, 2 with Prader-Willi syndrome, 1 with Bar …
RESULTS: Endocrine or syndromal disorders were diagnosed in 13 children (<1%; 4 with hypothyroidism, 1 with Cushing's syndrome, 1 with gr …