EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype–phenotype correlation?

We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb‐mammary syndrome (LMS). Features common to both families were an ectoder...

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Veröffentlicht in:	American journal of medical genetics. Part A 2007-05, Vol.143A (10), p.1114-1119
Hauptverfasser:	Maclean, Kenneth, Holme, Stephen A., Gilmour, Elizabeth, Taylor, Mark, Scheffer, Heide, Graf, Nicole, Smith, Grahame H.H., Onikul, Ella, van Bokhoven, Hans, Moss, Celia, Adès, Lesley C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult Arginine - genetics Biological and medical sciences Child, Preschool Cleft Lip - genetics Cleft Palate - genetics DNA-Binding Proteins - genetics dysuria Ectodermal Dysplasia - genetics Female fibrase Fingers - abnormalities Genotype Glutamine - genetics Humans Infant interstitial cystitis limb‐mammary syndrome Male Medical genetics Medical sciences Middle Aged Nephrology. Urinary tract diseases Pedigree Phenotype Point Mutation Syndrome Trans-Activators - genetics Transcription Factors Tumor Suppressor Proteins - genetics Urinary system involvement in other diseases. Miscellaneous Urinary tract. Prostate gland Urination Disorders - genetics
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