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Is there a genotype–phenotype correlation in primary hyperoxaluria type 1?

✍ Scribed by Beck, B B; Hoppe, B


Book ID
110053124
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
163 KB
Volume
70
Category
Article
ISSN
0085-2538

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## Abstract 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 familie