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European Journal of Medical Genetics, ISSN 1769-7212, 04/2019
Journal Article
by Fu, JL and Zhao, YT and Wang, T and Zhang, Q and Xiao, XH
BMC MEDICAL GENETICS, ISSN 1471-2350, 01/2019, Volume 20
BackgroundAcanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic... 
GENETICS & HEREDITY | Acanthosis nigricans | Mutation | HYPOCHONDROPLASIA | FGFR3
Journal Article
Clinical Pediatric Endocrinology, ISSN 0918-5739, 2017, Volume 26, Issue 4, pp. 223 - 228
Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH),... 
hypochondroplasia | acanthosis nigricans | FGFR3 | Hypochondroplasia | Acanthosis nigricans | Original
Journal Article
Endocrine Journal, ISSN 0918-8959, 03/2000, Volume 47, pp. S121 - S124
It has been reported that mutations in the FGFR3 gene cause autosomal dominant forms of dwarfism, achondroplasia (ACH) and hypochondroplasia (HCH). In the... 
Hypochondroplasia
Journal Article
Clinical Pediatric Endocrinology, ISSN 0918-5739, 2016, Volume 25, Issue 3, pp. 103 - 106
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2630 - 2636
Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive... 
acanthosis nigricans | achondroplasia | pleiotropy | FGFR3 | P.SER348CYS | SURVIVAL | HYPERINSULINEMIA | HYPOCHONDROPLASIA | K650Q MUTATION | THANATOPHORIC DYSPLASIA | GROWTH | GENETICS & HEREDITY | SKELETAL DYSPLASIA | MANIFESTATIONS | Achondroplasia | Adolescence | Malignancy | Acanthosis nigricans | Fibroblast growth factor receptors
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2018, Volume 9, Issue 2, pp. 92 - 99
Mutations in the fibroblast growth factor receptor 3 gene ( ) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II... 
Achondroplasia | Hypochondroplasia | High-resolution melting | FGFR3 | Thanatophoric dysplasia | Double heterozygosity | Original
Journal Article
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, ISSN 0334-018X, 11/2018, Volume 31, Issue 11, pp. 1279 - 1284
Background: Children with hypochondroplasia (HCH), who have FGFR3 mutations c.1620C>A or c.1620C>G (p.Asn540Lys) appear to have a more severe phenotype than... 
CENTILE CURVES | sitting height | hypochondroplasia | PUBERTY | leg length | ACHONDROPLASIA | GENE | ENDOCRINOLOGY & METABOLISM | HORMONE THERAPY | PEDIATRICS | growth | body proportion | BIRTH | FGFR3 | REFERENCES | height | AGE
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2018, Volume 176, Issue 9, pp. 1819 - 1829
The aims of this study was to construct references for sitting height, leg length, arm span, relative sitting height (sitting height/height), and foot length... 
leg length | sitting height | achondroplasia | foot length | GAMLSS | growth | body proportion | relative sitting height | arm span | CENTILE CURVES | DISORDERS | RECEPTOR | HYPOCHONDROPLASIA | CHILDHOOD | CHILDREN | TALL STATURE | GENETICS & HEREDITY | MUTATIONS | AGE | Achondroplasia | Arm | Leg | Feet
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 06/2015, Volume 172, Issue 6, pp. 763 - 770
Objective: Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, of which the least severe phenotype is... 
FACTOR RECEPTOR-3 GENE | DUTCH CHILDREN | ACTIVATION | ASN540SER MUTATION | LENGTH | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | HYPOCHONDROPLASIA | HEIGHT | FAMILY | Exome | Dwarfism - genetics | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Genes, Dominant | Pedigree | Humans | Child, Preschool | Adult | Female | Male | Mutation, Missense | Child
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 12/2011, Volume 28, Issue 6, pp. 705 - 707
Journal Article
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 11/2013, Volume 15, Issue 11, pp. 932 - 936
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 08/2017, Volume 34, Issue 4, pp. 494 - 498
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1225 - 1231
Achondroplasia–hypochondroplasia (ACH–HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. Only four... 
bone dysplasia | achondroplasia | hypochondroplasia | compound heterozygous genotype | fibroblast growth factor receptor 3 | GENETICS & HEREDITY | INFANT | FGFR3 GENE MUTATION | HETEROZYGOSITY | CURVES | Achondroplasia | Hypochondroplasia | Phenotypes | Genetic counseling | Decompression | Children | Survival | Fibroblast growth factor receptors | Acquisitions & mergers | Seizures
Journal Article
Current Pediatric Research, ISSN 0971-9032, 07/2011, Volume 15, Issue 2, pp. 137 - 140
Journal Article
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