Short-rib syndrome classification.
Beemer FA.
Am J Med Genet Suppl. 1987;3:209-10. doi: 10.1002/ajmg.1320280524.
Recurrent short rib polydactyly syndrome.
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A.
J Obstet Gynaecol. 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334.
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).
Rodriguez MM.
Fetal Pediatr Pathol. 2014 Oct-Dec;33(5-6):293-320. doi: 10.3109/15513815.2014.959678. Epub 2014 Oct 14.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH.
Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.
Short rib-polydactyly syndrome.
Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R.
Arch Gynecol Obstet. 2005 Jul;272(2):173-5. doi: 10.1007/s00404-004-0696-9. Epub 2004 Dec 17.
Short rib syndrome--Beemer type in sibs.
Hennekam RC.
Am J Med Genet. 1991 Aug 1;40(2):230-3. doi: 10.1002/ajmg.1320400221.
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC.
Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9.
In reply to "Short-rib syndrome Beemer-Langer type, a short history".
Cavalcanti DP.
Am J Med Genet A. 2018 Aug;176(8):1784. doi: 10.1002/ajmg.a.38841. Epub 2018 Jul 25.
Short rib syndrome Beemer-Langer type, a short history.
Beemer FA.
Am J Med Genet A. 2018 Jan;176(1):248-249. doi: 10.1002/ajmg.a.38514. Epub 2017 Nov 12.
The etiology, clinical features, and treatment options of hemifacial microsomia.
Luo S, Sun H, Bian Q, Liu Z, Wang X.
Oral Dis. 2023 Sep;29(6):2449-2462. doi: 10.1111/odi.14508. Epub 2023 Mar 13.
