Clinical utility gene card for: Peters plus syndrome
نویسندگان
چکیده
منابع مشابه
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.
متن کاملPrenatal Diagnosis of Fetal Peters' Plus Syndrome: A Case Report
Peters' plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters' plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a cl...
متن کاملPeters plus syndrome and absence of kidney: a case report
A case of bilateral Peters anomaly with missing kidney on left was examined. The case of missing kidney in Peters anomaly has not been reported in literature to our knowledge, making this case a unique one.
متن کاملImpaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome
Peters Plus syndrome (PPS), a congenital disorder of glycosylation, results from recessive mutations affecting the glucosyltransferase B3GLCT, leading to congenital corneal opacity and diverse extra-ocular manifestations. Together with the fucosyltransferase POFUT2, B3GLCT adds Glucoseβ1-3Fucose disaccharide to a consensus sequence in thrombospondin type 1 repeats (TSRs) of several proteins. Wh...
متن کاملAn Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene
BACKGROUND Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. CASE PRESENTATION We report here a female patient with seve...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2016
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.32