Article
The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
Bobric Nicoleta-Andreea, Grevoul-Fesquet Julie, Rigonnot Luc, Trost Detlef, Boughalem Aïcha, Martinovic Jelena
Abstract excerpt
Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive genetic condition with 90% of cases associated with biallelic pathogenic variants in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene on chromosome 7q.11.21. SDS belongs to ribosomopathies since SBDS gene encodes a protein involved in ribosomal maturation. Its phenotypic postnatal hallmark features include growth delay, bone marrow failure, exocrine...
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