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Multiple congenital anomaly disorders
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Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown.
15p
vibransone
28-03-2024
5
2
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Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors.
15p
vioraclene
31-03-2024
4
2
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Part 2 book "Gomella’s neonatology" includes content: ABO incompatibility, bronchopulmonary dysplasia/chronic lung disease oagulation disorders, common multiple congenital anomalies - syndromes, sequences, and associations, congenital heart disease disorders of sex development, hydrocephalus and ventriculomegaly, multiple gestation, meconium aspiration, neural tube defects, necrotizing enterocolitis,... and other contents.
641p
oursky03
28-08-2023
7
1
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The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies.
3p
vihagrid
30-01-2023
5
3
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The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders.
6p
vichengshin2711
26-02-2020
15
0
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