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DC Field | Value | Language |
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dc.contributor.author | Spiteri, Bernice Sophie | - |
dc.contributor.author | Yanika, Stafrace | - |
dc.contributor.author | Calleja-Agius, Jean | - |
dc.date.accessioned | 2020-08-18T09:06:23Z | - |
dc.date.available | 2020-08-18T09:06:23Z | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | Spiteri, B. S., Stafrace, Y., & Calleja-Agius, J. (2017). Silver-Russell syndrome : a review. Neonatal Network, 36(4), 206-212. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/59564 | - |
dc.description.abstract | Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. However, chromosomes 7, 11, and 17 are consistently involved in all individuals who meet the strict diagnostic criteria of SRS. There are many clinical features characteristic of SRS; the most common are low birth weight, short stature, triangular face, clinodactyly, relative macrocephaly, ear anomalies, and skeletal asymmetry. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Springer Publishing Company | en_GB |
dc.rights | info:eu-repo/semantics/restrictedAccess | en_GB |
dc.subject | Face -- Abnormalities | en_GB |
dc.subject | Stature, Short | en_GB |
dc.subject | Genomic imprinting | en_GB |
dc.subject | Children -- Diseases | en_GB |
dc.subject | Dwarfism | en_GB |
dc.title | Silver-Russell syndrome : a review | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1891/0730-0832.36.4.206 | - |
dc.publication.title | Neonatal Network | en_GB |
Appears in Collections: | Scholarly Works - FacM&SAna |
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File | Description | Size | Format | |
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Silver-Russell_syndrome_a_review_2017.pdf Restricted Access | 1.61 MB | Adobe PDF | View/Open Request a copy |
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