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PedAM

Pediatric Disease Annotations & Medicines




Disease microcephaly
Symptom C1839611|n syndrome
Sentences 5
PubMedID- 21633703 We suggest that a defective chromosome segregation mechanism is responsible for the development of microcephaly in angelman syndrome.
PubMedID- 25781962 3a) contained genes such as akt3, considered the underlying cause for the microcephaly in patients with the 1q44 microdeletion syndrome, and mapk1, involved in neurogenesis and located within the distal 22q11 deletion frequently associated with microcephaly.
PubMedID- 25424989 This gene is frequently involved in 1q44 deletion syndrome in patients with microcephaly, intellectual disability, and dysmorphic features.
PubMedID- 26238961 We identified a deleted region of 496 kb by whole genome array cgh in a patient who fulfilled criteria for 2q37 microdeletion syndrome with developmental delay, microcephaly, hypoplasia of the corpus callosum, hand wringing, toe walking, and seizures.
PubMedID- 21815250 We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (mic), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal carter et al.

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