Holoprosencephaly

[1]. Christèle Dubourg, et al. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. [Content Brief]

[2]. D E Wallis, et al. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8. [Content Brief]

[3]. E Roessler, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 1996 Nov;14(3):357-60. [Content Brief]

[4]. Elisa De Franco, et al. A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. Am J Hum Genet. 2019 May 2;104(5):985-989. [Content Brief]

[5]. Erich Roessler, et al. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13424-9. [Content Brief]

[6]. Gyu-Un Bae, et al. Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet. 2011 Aug 12;89(2):231-40. [Content Brief]

[7]. Ichrak Drissi, et al. Mutations in phospholipase C eta-1 ( PLCH1) are associated with holoprosencephaly. J Med Genet. 2022 Apr;59(4):358-365. [Content Brief]

[8]. Jeffrey E Ming, et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. [Content Brief]

[9]. K W Gripp, et al. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet. 2000 Jun;25(2):205-8. [Content Brief]

[10]. M Fernandes, et al. The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces. Clin Genet. 2008 May;73(5):413-23. [Content Brief]

[11]. M Michael Cohen Jr, et al. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol. 2006 Sep;76(9):658-73. [Content Brief]

[12]. Paul Kruszka, et al. Cohesin complex-associated holoprosencephaly. Brain. 2019 Sep 1;142(9):2631-2643. [Content Brief]

[13]. S A Brown, et al. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet. 1998 Oct;20(2):180-3. [Content Brief]