Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
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Publisher
Heidelberg: Springer
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Language
English
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Publisher
Heidelberg: Springer
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Contents
Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, swallowing difficulties, hypospadias and developmental delay. SSCP analysis and genomic sequencing of the MID1 open reading frame have identified mutations in 80% of the families with X-linked inheritance. However, in many patients the unde...
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Full title
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
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TN_cdi_proquest_journals_215549044
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_215549044
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ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-002-0901-5
