PedAM

Pediatric Disease Annotations & Medicines

Disease	acanthosis nigricans
Symptom	C0010273\|crouzon syndrome
Sentences	11
PubMedID- 24476664	Crouzono-dermo-skeletal syndrome, crouzon syndrome with acanthosis nigricans syndrome.
PubMedID- 23571469	Cutaneous features of crouzon syndrome with acanthosis nigricans.
PubMedID- 23986840	crouzon syndrome with acanthosis nigricans (can) is caused by a specific ala391glu mutation in the fgfr3 gene on chromosome 4. the entity was initially described by meyer et al.
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 .
PubMedID- 25442473	Background: crouzon syndrome with acanthosis nigricans is a rare form of crouzon syndrome in which craniosynostosis and facial dysmorphism are associated with acanthosis nigricans.
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.
PubMedID- 21136065	Background: crouzon syndrome with acanthosis nigricans also named crouzono-dermo-skeletal is a clinically and genetically distinct entity.
PubMedID- 23437153	The a391e mutation in fibroblast growth factor receptor 3 (fgfr3) is the genetic cause for crouzon syndrome with acanthosis nigricans.
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 , not the long bones.
PubMedID- 20061739	A rare association of acanthosis nigricans with crouzon syndrome.
PubMedID- 22649697	In particular, gly380arg and ala391glu mutations in the tmregion of fgfr3 cause lethal dysplasia , respectively.

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