Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?
| Autor: | J.H.L.M. van Bokhoven, M.T.W.T. Lock, P.M. Kastrop, Jacques C. Giltay, D. Wittebol-Post |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male Foot Deformities Congenital Split foot Elucidation of hereditary disorders and their molecular diagnosis Iris Choroid coloboma Pathology and Forensic Medicine medicine Humans Abnormalities Multiple Genes Tumor Suppressor Iris (anatomy) Infertility Male Genetics (clinical) Hypospadias Coloboma Choroid business.industry Tumor Suppressor Proteins Membrane Proteins General Medicine Anatomy Phosphoproteins medicine.disease Iris coloboma eye diseases DNA-Binding Proteins medicine.anatomical_structure Pediatrics Perinatology and Child Health Trans-Activators sense organs Opheldering van erfelijke ziekten en hun moleculaire diagnostiek business Hand Deformities Congenital Foot (unit) Transcription Factors |
| Zdroj: | Clinical Dysmorphology, 11, 231-6 Clinical Dysmorphology, 11, 4, pp. 231-6 |
| ISSN: | 0962-8827 |
| Popis: | Item does not contain fulltext This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome. |
| Databáze: | OpenAIRE |
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