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Phenotypic Variations in Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seizures and midline defects in the brain, heart, palate a...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Balkan J Med Genet
Prif Awduron: Sukarova-Angelovska, E, Kocova, M, Sabolich, V, Palcevska, S, Angelkova, N
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Macedonian Science of Sciences and Arts 2014
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4347473/
https://ncbi.nlm.nih.gov/pubmed/25741211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2014-0021
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