LADD syndrome is caused by FGF10 mutations

Lacrimo‐auriculo‐dento‐digital syndrome [LADD (MIM 149730)] is an autosomal‐dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup‐shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations...

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Veröffentlicht in:	Clinical genetics 2006-04, Vol.69 (4), p.349-354
Hauptverfasser:	Milunsky, JM, Zhao, G, Maher, TA, Colby, R, Everman, DB
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult ALSG autosomal-dominant disorder Base Sequence Biological and medical sciences Child, Preschool Ear, External - abnormalities Female FGF10 Fibroblast Growth Factor 10 - genetics Fibroblast Growth Factor 10 - metabolism General aspects. Genetic counseling Humans Lacrimal Apparatus - abnormalities LADD syndrome Medical genetics Medical sciences Molecular Sequence Data Mutation Polymorphism, Single Nucleotide Salivary Glands - abnormalities Syndrome Tooth Abnormalities - genetics
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