Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56.
PMID:21846383
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD.
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664.
PMID:30580478
Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”.
Vargas FR, de Almeida JC, Llerena Júnior JC, Reis DF.
Am J Med Genet. 1992 Dec 1;44(6):716-9. doi: 10.1002/ajmg.1320440604.
PMID:1481838
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL.
N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361.
PMID:28792876
Radial longitudinal deficiency.
Maschke SD, Seitz W, Lawton J.
J Am Acad Orthop Surg. 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005.
PMID:17213381
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G.
Hum Mol Genet. 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258.