| 1 | CPHD3, LHX3
|
| A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature.
|
| Bonfig W, Krude H, Schmidt H.
|
| Eur J Pediatr 170(8):1017-21. Epub 2011 Jan 20. Review.
2011
|
| 2 | CPHD3, LHX3
|
| Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
|
| Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T.
|
| J Clin Endocrinol Metab 95(8):4043-7. Epub 2010 Jun 9.
2010
|
| 3 | CPHD3, LHX3
|
| A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations.
|
| Kriström B, Zdunek AM, Rydh A, Jonsson H, Sehlin P, Escher SA.
|
| J Clin Endocrinol Metab 94(4):1154-61. Epub 2009 Jan 6.PMID: 19126629 2009
|
| 4 | CPHD3, LHX3, SOX2
|
| Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
|
| Rajab A, Kelberman D, de Castro SC, Biebermann H, Shaikh H, Pearce K, Hall CM, Shaikh G, Gerrelli D, Grueters A, Krude H, Dattani MT.
|
| Hum Mol Genet 17(14):2150-9. Epub 2008 Apr 10.
2008
|
| 5 | CPHD3,LHX3
|
| Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
|
| Pfaeffle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Bramswig JH, Stobbe HM, Blum WF, Rhodes SJ.
|
| J Clin Endocrinol Metab 92(5):1909-19. Epub 2007 Feb 27. 2007
|
| 6 | LHX3, CPHD3
|
| Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.
|
| Bhangoo AP, Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ.
|
| J Clin Endocrinol Metab 91(3):747-53. Epub 2006 Jan 4. 2006
|
| 7 | CPHD3, LHX3
|
| Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
|
| Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers Av, Goossens M, Gruters A, Amselem S.
|
| Nat Genet 25(2):182-6. 2000
|