Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.
Borgatti
Renato
R
Marelli
Susan
S
Bernardini
Laura
L
Novelli
Antonio
A
Cavallini
Anna
A
Tonelli
Alessandra
A
Bassi
Maria Teresa
MT
Dallapiccola
Bruno
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000235:genetics*; D011247:Pregnancy; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D013577:Syndrome
C118925:ADGRG1 protein, human; D043562:Receptors, G-Protein-Coupled