Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference23 articles.
1. Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
2. Osteodysplastic primordial dwarfism: Report of a further case with manifestations similar to those of types I and III
3. Microcephalic, osteodysplastic, primordial dwarfism
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1. Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III;Journal of Clinical Immunology;2023-02-18
2. A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II);Frontiers in Pediatrics;2020-06-25
3. Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II;Egyptian Journal of Medical Human Genetics;2017-10
4. WITHDRAWN: Majewski Osteodysplastic Primordial Dwarfism, Type II with marked loss of subcutaneous fat, severe anemia, clenched hands and skeletal anomalies in an Egyptian patient;Egyptian Journal of Medical Human Genetics;2017-08
5. Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1);Bone;2016-11
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