title: [Spinal muscular atrophy-type I with respiratory distress].
authors: Silvia
authors: S
authors: Calderón-Rodríguez
authors: Verónica
authors: V
authors: Cantarín-Extremera
authors: María Ángeles
authors: MÁ
authors: García-Teresa
authors: Montserrat
authors: M
authors: Nieto-Moro
authors: Juan
authors: J
authors: Casado-Flores
authors: Fernando
authors: F
authors: Martín-Del Valle
authors: Anna
authors: A
authors: Duat-Rodríguez
mesh_terms: D003241:Consanguinity; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006548:Hernia, Diaphragmatic / Q000175:diagnosis; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000503:physiopathology; D012132:Respiratory Muscles / Q000503:physiopathology; D012133:Respiratory Paralysis / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D012135:Respiratory Sounds / Q000209:etiology; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors