... 7; HPE7 HOLOPROSENCEPHALY 9; HPE9 HOLOPROSENCEPHALY 8; HPE8 HOLOPROSENCEPHALY 5; HPE5 Scientific Articles on PubMed PubMed References Dubourg C, Bendavid C, Pasquier L, Henry C, ...

... SHH Gene and Variant Databases NCBI Gene ClinVar References Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2: ...

... syndrome Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Holoprosencephaly, hypertelorism, ... References Dhamija R, Babovic-Vuksanovic D. FGFR1-Related Hartsfield ...

... TGIF Gene and Variant Databases NCBI Gene ClinVar References Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V. Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 2003 ...

... ZIC2 Gene and Variant Databases NCBI Gene ClinVar References Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion ...

... SIX3 Gene and Variant Databases NCBI Gene ClinVar References Domene S, Roessler E, El-Jaick KB, Snir M, Brown JL, Velez JI, Bale S, Lacbawan F, Muenke M, Feldman B. Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet. 2008 ...

... the condition. More About This Health Condition Nonsyndromic holoprosencephaly MedlinePlus Genetics provides information about Nonsyndromic holoprosencephaly More ...

... chromosome 9. More About This Health Condition Nonsyndromic holoprosencephaly At least seven mutations in the PTCH1 gene have been found to cause nonsyndromic holoprosencephaly. This condition occurs when the brain fails to ...