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Quoted phrase not found in phrase index: "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
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Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.
Kim DS, Li YK, Kim JH, Bergquist CS, Gerdes M, Bernbaum JC, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Nickerson DA, Hakonarson H, Jarvik GP, Gaynor JW. Kim DS, et al. J Thorac Cardiovasc Surg. 2018 Mar;155(3):1139-1147.e2. doi: 10.1016/j.jtcvs.2017.08.035. Epub 2017 Dec 7. J Thorac Cardiovasc Surg. 2018. PMID: 29452463 Free PMC article.
METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295). ...CONCLUSIONS: We report the novel finding that carr …
METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who under …
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.
Jinxiu L, Shuimei L, Ming X, Jonathan LC, Xiangju L, Wenyuan D. Jinxiu L, et al. Medicine (Baltimore). 2020 Apr;99(16):e19813. doi: 10.1097/MD.0000000000019813. Medicine (Baltimore). 2020. PMID: 32311999 Free PMC article.
RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. ...PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophim …
RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant …