TY - JOUR
T1 - Acanthosis Nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3
AU - Berk, David R.
AU - Del Carmen Boente, Maria
AU - Montanari, Daniela
AU - Toloza, Maria Guadalupe
AU - Primc, Norma Betriz
AU - Prado, Maria Ines
AU - Bayliss, Susan J.
AU - Pique, Lynn M.
AU - Schrijver, Iris
PY - 2010/11
Y1 - 2010/11
N2 - Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.
AB - Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.
UR - http://www.scopus.com/inward/record.url?scp=78650099631&partnerID=8YFLogxK
U2 - 10.1111/j.1525-1470.2010.01331.x
DO - 10.1111/j.1525-1470.2010.01331.x
M3 - Article
C2 - 21510009
AN - SCOPUS:78650099631
VL - 27
SP - 664
EP - 666
JO - Pediatric Dermatology
JF - Pediatric Dermatology
SN - 0736-8046
IS - 6
ER -