PedAM

Pediatric Disease Annotations & Medicines

Disease	n syndrome
Phenotype	C0000889\|acanthosis nigricans
Sentences	11
PubMedID- 21136065	Background: crouzon syndrome with acanthosis nigricans also named crouzono-dermo-skeletal is a clinically and genetically distinct entity.
PubMedID- 23762837	Mutations in fgfr2 cause apert, crouzon, jackson-weiss, and pfeiffer craniosynostosis syndromes, while mutations in fgfr1 cause pfeiffer syndrome and mutations in fgfr3 cause muenke craniosynostosis syndrome and crouzon syndrome with acanthosis nigricans [13–17].
PubMedID- 23986840	It identified the heterozygous c.1172c > a; p.ala391glu mutation in the fgfr3 gene, which is responsible for crouzon syndrome with acanthosis nigricans.
PubMedID- 23437153	The signal attenuation due to decreased surface expression may explain the relatively mild phenotype in crouzon syndrome with acanthosis nigricans.
PubMedID- 25442473	These clinical anomalies suggested a case of crouzon syndrome with acanthosis nigricans, which was later confirmed by the finding of a mutation in the fgfr3 gene.
PubMedID- 22529939	However, the a391e mutation causes a distinctly different phenotype, crouzon syndrome with acanthosis nigricans, a disorder which impacts predominantly the cranial bones and the skin [47], not the long bones.
PubMedID- 20061739	A rare association of acanthosis nigricans with crouzon syndrome.
PubMedID- 24476664	Crouzono-dermo-skeletal syndrome, crouzon syndrome with acanthosis nigricans syndrome.
PubMedID- 23571469	Cutaneous features of crouzon syndrome with acanthosis nigricans.
PubMedID- 22649697	In particular, gly380arg and ala391glu mutations in the tmregion of fgfr3 cause lethal dysplasia [7] andthe crouzon syndrome with acanthosis nigricans [8], respectively.
PubMedID- 26244699	First, we show that the a391e mutation, linked to crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances fgfr3 dimerization in the absence of ligand and thus induces aberrant receptor interactions.

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