Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 3, 2012, Pages

  Sobrier, Marie Laure ^a   Brachet, Cécile ^b   Vié Luton, Marie Pierre ^a,c   Perez, Christelle ^a   Copin, Bruno ^a,c   Legendre, Marie ^a,c   Heinrichs, Claudine ^b   Amselem, Serge ^a,c  

^a INSERM   (France)

^b HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^c ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; HYDROCORTISONE; LEVOTHYROXINE; SURFACTANT; TRANSCRIPTION FACTOR LHX3; TRANSCRIPTION FACTOR PIT 1;

ANASARCA; ARTICLE; ASTIGMATISM; CASE REPORT; CHILD; COMBINED PITUITARY HORMONE DEFICIENCY; CONTROLLED STUDY; CORTICOTROPIN DEFICIENCY; CRYPTORCHISM; FAMILY HISTORY; FOLLOW UP; GENE; GENE MUTATION; GENETIC COUNSELING; GONADOTROPIN DEFICIENCY; GROWTH HORMONE DEFICIENCY; HEAD MOVEMENT; HETEROZYGOTE; HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; HYPOTHYROIDISM; INFANT; LHX3 GENE; MALE; MICROPENIS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NECK MALFORMATION; NEWBORN; PEDIGREE ANALYSIS; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RETROGNATHIA; SCHOOL CHILD; SCOLIOSIS; SPLICING DEFECT; STRABISMUS;

CHILD; CHILD, PRESCHOOL; HETEROZYGOTE; HUMANS; HYPOPITUITARISM; INFANT; INFANT, NEWBORN; LIM-HOMEODOMAIN PROTEINS; MALE; MUTATION; PITUITARY HORMONES; PRENATAL DIAGNOSIS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84858057543     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2095     Document Type: Article

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