Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

Yolande Bever, LP (Liselotte) van Hest, R.C.W. Wolfs, Dick Tibboel, TL Hoonaard, S.J. Gischler

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We describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the PAX6, FOX1, PITX2, and MYNC genes was normal as was MLPA for these genes. Autosomal recessive inheritance is possible as recurrence in sibs was described, although germ line mosaicism or a microdeletion due to a very small parental translocation cannot be ruled out. (c) 2008 Wiley-Liss, Inc.
Original languageUndefined/Unknown
Pages (from-to)500-504
Number of pages5
JournalAmerican Journal of Medical Genetics Part A
Issue number4
Publication statusPublished - 2008

Research programs

  • EMC MGC-02-53-01-A
  • EMC MGC-02-96-01
  • EMC OR-01-60-01

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