Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
about
BMPR1B mutation causes Pierre Robin sequenceA prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.Further defining the critical genes for the 4q21 microdeletion disorder.A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.4q21 microdeletion in a patient with epilepsy and brain malformations.
P2860
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P2860
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
description
2013 nî lūn-bûn
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name
Expanding the spectrum of micr ...... ate and Pierre Robin sequence.
@en
Expanding the spectrum of micr ...... ate and Pierre Robin sequence.
@nl
type
label
Expanding the spectrum of micr ...... ate and Pierre Robin sequence.
@en
Expanding the spectrum of micr ...... ate and Pierre Robin sequence.
@nl
prefLabel
Expanding the spectrum of micr ...... ate and Pierre Robin sequence.
@en
Expanding the spectrum of micr ...... ate and Pierre Robin sequence.
@nl
P2093
P2860
P356
P1476
Expanding the spectrum of micr ...... ate and Pierre Robin sequence.
@en
P2093
Christopher Tan
Darrel Waggoner
Elizabeth Bhoj
Rachel Lande
Sara Halbach
P2860
P304
P356
10.1002/AJMG.A.36061
P407
P577
2013-08-02T00:00:00Z