Papillon–Lefevre syndrome (PLS) without cathepsin C mutation: A rare early onset partially penetrant variant of PLS
نویسندگان
چکیده
منابع مشابه
Holt-Oram Syndrome: A Rare Variant
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...
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ژورنال
عنوان ژورنال: The Saudi Dental Journal
سال: 2014
ISSN: 1013-9052
DOI: 10.1016/j.sdentj.2013.12.004