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    EEC SYNDROME WITH A DE NOVO MUTATION (c.953G > A) ON EXON 7 OF P63 GENE: A CASE REPORT
    (Medecine Et Hygiene, 2012) Okur, Mesut; Eröz, Recep; Mundlos, Stefan; Şenses, Dursun Ali; Ülgen, E.; İsmailler, Z.B.; Özçelik, Derya
    EEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: a case report: EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G>A) on exon 7 of p63 gene is presented.
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    EEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: A case report
    (2012) Okur, Mesut; Eröz, Recep; Mundlos, Stefan; Şenses, Dursun Ali; Ülgen, E.; İsmailler, Z.B.; Özçelik, Derya
    EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft Hp and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G>A) on exon 7 of p63 gene is presented.
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    A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN
    (Univ Chicago Press, 2007) Lehmann, K.; Seemann, Petra; Sılan, Fatma; Goecke, Tim O.; Irgang, S.; Kjaer, K.W.; Mundlos, Stefan
    (B) under bar rachy (d) under bar actyly type B (BDB) is characterized by terminal deficiency of fingers and toes, which is caused by heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the ma ority of patients n a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36p, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG). In contrast to previously described loss-of-function mutations in NOG, which are known to cause a range of conditions associated with abnormal joint formation but without BD13, the newly identified BDB mutations do not indicate a major loss of function, as suggested by calculation of free-binding energy of the modeled NOG-GDF5 complex and functional analysis of the micromass culture system. Rather, they presumably alter NOG's ability to bind to BMPs and growth-differentiation factors (GDFs) in a subtle way, thus disturbing the intricate balance of BMP signaling. The combined features observed in this phenotypic subtype of BDB argue for a functional connection between BMP and ROR2 signaling and support previous findings of a modulating effect of ROR2 on the BMP-receptor pathway through the formation of a heteromeric complex of the receptors at the cell surface.