DARYL SCOTT to Syndrome
This is a "connection" page, showing publications DARYL SCOTT has written about Syndrome.
Connection Strength
0.397
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Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63845.
Score: 0.178
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Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. Am J Med Genet A. 2007 Nov 01; 143A(21):2576-80.
Score: 0.056
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Genetics of congenital diaphragmatic hernia. Semin Pediatr Surg. 2007 May; 16(2):88-93.
Score: 0.054
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A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 10; 28(5):428-435.
Score: 0.035
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Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. Am J Med Genet A. 2020 04; 182(4):652-658.
Score: 0.032
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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
Score: 0.029
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Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A. 2007 May 15; 143A(10):1071-81.
Score: 0.013