Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference21 articles.
1. Bowen syndrome: Congenital glaucoma, flexion contracture of fingers and facial dysmorphism without peroxisomal abnormalities
2. Megalocornea and mental retardation syndrome: Two new cases
3. Melnick-needles syndrome in males: A lethal multiple congenital anomalies syndrome
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2. The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome;Biology Open;2020-01-01
3. Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling;American Journal of Medical Genetics Part A;2019-06-19
4. Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature;Gene;2017-09
5. Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome;European Journal of Human Genetics;2013-10-09
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