2020
DOI: 10.1016/j.ejmg.2019.03.005
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Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation

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“…Gene mutation in EFNB1 can result in bifid nose, such as c.373G > A [ 14 ], c.270_271del [ 15 ] and c.451G > A [ 16 ]. ZIC2 (c.1599 * 954 T > A) [ 17 ]、 PORCN (c.727C > T) [ 18 ]、 TBX1 (c.1132G > A) [ 19 ] have also been reported to present bifid nose. Frontonasal dysplasia resulted from ALX1 , ALX3 , ALX4 can also present bifid nose [ 2 ].…”
Section: Discussionmentioning
confidence: 99%
“…Gene mutation in EFNB1 can result in bifid nose, such as c.373G > A [ 14 ], c.270_271del [ 15 ] and c.451G > A [ 16 ]. ZIC2 (c.1599 * 954 T > A) [ 17 ]、 PORCN (c.727C > T) [ 18 ]、 TBX1 (c.1132G > A) [ 19 ] have also been reported to present bifid nose. Frontonasal dysplasia resulted from ALX1 , ALX3 , ALX4 can also present bifid nose [ 2 ].…”
Section: Discussionmentioning
confidence: 99%