Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

Author:

Hehr Ute,Pineda-Alvarez Daniel E.,Uyanik Goekhan,Hu Ping,Zhou Nan,Hehr Andreas,Schell-Apacik Chayim,Altus Carola,Daumer-Haas Cornelia,Meiner Annechristin,Steuernagel Peter,Roessler Erich,Winkler Juergen,Muenke Maximilian

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference30 articles.

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2. Barkovich AJ, Quint D (1993) Middle interhemispheric fusion: an unusual variant of holoprosencephaly. Am J Neuroradiol 14:431–440

3. Barkovich AJ, Simon EM, Clegg NJ, Kinsman SL, Hahn JS (2002) Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures. Am J Neuroradiol 23:143–150

4. Brown LY, Hodge SE, Johnson WG, Guy SG, Nye JS, Brown S (2002) Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene. Am J Med Genet 108:128–131

5. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E (1996) Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12:94–96

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