[1] Prader A.Adrenogenital syndrome,adrenogenital salt deficiency syndrome and cushing′s syndrome in childhood[J].Schweiz Med Wochenschr,1956,86(12):289-299.
[2] Angulo MA,Butler MG,Cataletto ME.Prader-willi syndrome:A review of clinical,genetic,and endocrine findings[J].J Endocrinol Invest,2015,38(12):1249-1263.
[3] Butler MG,Manzardo AM,Forster JL.Prader-willi syndrome:Clinical genetics and diagnostic aspects with treatment approaches[J].Curr Pediatr Rev,2016,12(2):136-166.
[4] Yamazawa K,Ogata T,Ferguson-Smith AC.Uniparental disomy and human disease:an overview[J].Am J Med Genet C Semin Med Genet,2010,154(3):329-334.
[5] Singh P,Mahmoud R,Gold JA,et al.Multicentre study of maternal and neonatal outcomes in individuals with prader-willi syndrome[J].J Med Genet,2018,55(9):594-598.
[6] Yang L,Zhou Q,Ma B,et al.Perinatal features of prader-willi syndrome:a Chinese cohort of 134 patients[J].Orphanet J Rare Dis,2020,15(1):24.
[7] Hurren BJ,Flack NA.Prader-willi syndrome:a spectrum of anatomical and clinical features[J].Clin Anat,2016,29(5):590-605.
[8] Cassidy SB,Forsythe M,Heeger S,et al.Comparison of phenotype between patients with prader-willi syndrome due to deletion 15q and uniparental disomy 15[J].Am J Med Genet,1997,68(4):433-440.
[9] Gold JA,Mahmoud R,Cassidy SB,et al.Comparison of perinatal factors in deletion versus uniparental disomy in prader-willi syndrome[J].Am J Med Genet A,2018,176(5):1161-1165.
[10] Bennett JA,Germani T,Haqq AM,et al.Autism spectrum disorder in prader-willi syndrome:a systematic review[J].Am J Med Genet A,2015,167A(12):2936-2944.
[11] Aman LCS,Manning KE,Whittington JE,et al.Mechanistic insights into the genetics of affective psychosis from prader-willi syndrome[J].Lancet Psychiatry,2018,5(4):370-378.
[12] Novell-Alsina R,Esteba-Castillo S,Caixas A,et al.Compulsions in prader-willi syndrome:occurrence and severity as a function of genetic subtype[J].Actas Esp Psiquiatr,2019,47(3):79-87.
[13] 中国医师协会医学遗传学分会,中国医师协会青春期医学专业委员会临床遗传学组,中华医学会儿科学分会内分泌遗传代谢学组.染色体基因组芯片在儿科遗传病的临床应用专家共识[J].中华儿科杂志,2016,54(6):410-413. |
