Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 245-255

  Martínez Frías, María Luisa ^a,b,c   De Frutos, Cristina A ^d   Bermejo, Eva ^a,b   Nieto, M Angela ^d   Gomar, J L ^e   Nieto, C ^e   Aparicio, P ^e   Centeno, F ^e   Felix V ^e   Rodriguez F ^e   Arroyo, I ^e   Blanco, M ^e  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^d INSTITUTO DE NEUROCIENCIAS   (Spain)

^e ISCIII ^*

Author keywords

Achondroplasia; FGFR3; Short limb dwarfism; Snail; Thanatophoric dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR 3; GROWTH HORMONE; MITOGEN ACTIVATED PROTEIN KINASE; STAT1 PROTEIN; TRANSCRIPTION FACTOR SNAIL; FIBROBLAST GROWTH FACTOR RECEPTOR 3; NATRIURETIC PEPTIDE TYPE C;

ACANTHOSIS NIGRICANS; ACHONDROPLASIA; BONE GROWTH; BONE MALFORMATION; CARTILAGE CELL; CELL DIFFERENTIATION; CELL PROLIFERATION; CHONDROGENESIS; DISTRACTION OSTEOGENESIS; FRONTAL BOSSING; GENE MUTATION; GROWTH RETARDATION; HORMONAL THERAPY; HUMAN; HYPOCHONDROPLASIA; LIMB MALFORMATION; MACROCEPHALY; MIDFACE HYPOPLASIA; NONHUMAN; PRIORITY JOURNAL; RADIODIAGNOSIS; REVIEW; SIGNAL TRANSDUCTION; SKULL DEFECT; STILLBIRTH; THANATOPHORIC DWARFISM; THORAX DEFORMITY; ALLELE; APOPTOSIS; BIRTH; CELL FUNCTION; CELL SURVIVAL; CLINICAL ASSESSMENT; FGFR3 GENE; GENE; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOSITY; INCIDENCE; MOLECULAR BIOLOGY; PATHOGENESIS; PROTEIN TARGETING; QUALITY OF LIFE; SEVERE ACHONDROPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRANS; SYMPTOMATOLOGY; X RAY;

ACHONDROPLASIA; HUMANS; INFANT, NEWBORN; THANATOPHORIC DYSPLASIA;

GASTROPODA;

EID: 75149128600     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33188     Document Type: Review

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