References
- Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med 2009;360:606–14
- Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol 2010;45:257–79
- McLaran K, Panay N. Premature ovarian failure. J Fam Plann Reprod Health Care 2011;37:35–42
- Rim PH, Marques-de-Faria AP. Ophthalmic aspects of GAPO syndrome: case report and review. Ophthalmic Genet 2005;26:143–7
- Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comp Biol 1997;4:311–23
- Goloni-Bertollo EM, Ruiz MT, Goloni CB, Muniz MP, Valerio NI, Pavarino-Bertelli EC. GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of literature. Am J Med Genet Part A 2008;146A:1523–9
- Bayram Y, Pehlivan D, Karaca E, et al. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A 2014;164A:2328–34
- Tipton RE, Gorlin RJ. Growth retardation, alopecia, pseudo-anodontia and optic atrophy – the GAPO syndrome: report of a patient and review of the literature. Am J Med Genet 1984;19:209–16
- Kocabay G, Mert M. GAPO syndrome associated with dilated cardiomyopathy: an unreported association. Am J Med Genet Part A 2009;149A:415–16
- Moriya N, Mitsui T, Shibata T, et al. GAPO syndrome: report on the first case in Japan. Am J Med Genet 1995;58:257–61
- Demirgunes EF, Ersoy-Evans S, Karaduman A. GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism. Am J Med Genet A 2009;149A:802–5
- Rapsomaniki M, Chiarella G, Mascaro I, et al. GAPO syndrome associated with vestibular dysfunction and hearing loss. Am J Med Genet A 2013;161A:2102–4
- Wajntal A, Koiffmann CP, Mendonca BB, et al. GAPO syndrome (McKusick 23074) – a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. Am J Med Genet 1990;37:213–23
- da Silveira HE, Quadros OF, Dalla-Bona RR, da Silveira HL, Fritscher GG. Dental findings in GAPO syndrome: case report. Braz Dent J 2006;17:259–62
- Stránecký V, Hoischen A, Hartmannová H, et al. Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet 2013;92:792–9