Expresión de búsqueda: LARON SYNDROME 
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Descriptor Inglés:   Laron Syndrome 
Descriptor Español:   Síndrome de Laron 
Descriptor Portugués:   Síndrome de Laron 
Sinónimos Inglés:   Dwarfism II, Pituitary
Dwarfism IIs, Pituitary
Dwarfism, Laron
GH Resistance, Primary
Growth Hormone Insensitivity Syndrome
Growth Hormone Receptor Defect
Growth Hormone Receptor Deficiency
Laron Dwarfism
Laron Type Dwarfism I
Pituitary Dwarfism II
Pituitary Dwarfism IIs
Primary GH Resistance
Primary Growth Hormone Resistance
Severe GH Insensitivity
Syndrome, Laron  
Categoría:   C05.116.099.343.679
C16.320.240.750
C19.297.656
Definición Inglés:   An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5. 
Nota Histórica Inglés:   2005 
Calificadores Permitidos Inglés:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Número del Registro:   38609 
Identificador Único:   D046150 

Ocurrencia en la BVS:
 

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