Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 1, 2015, Pages E140-E147

  Karaca, Ender ^a   Buyukkaya, Ramazan ^b   Pehlivan, Davut ^a   Charng, Wu Lin ^a   Yaykasli, Kursat O ^c   Bayram, Yavuz ^a   Gambin, Tomasz ^a   Withers, Marjorie ^a   Atik, Mehmed M ^a   Arslanoglu, Ilknur ^b   Bolu, Semih ^b   Erdin, Serkan ^d   Buyukkaya, Ayla ^e   Yaykasli, Emine ^b   Jhangiani, Shalini N ^a   Muzny, Donna M ^a   Gibbs, Richard A ^a   Lupski, James R ^a,f  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b DUZCE UNIVERSITY   (Turkey)

^c KAHRAMANMARAS SUTCU IMAM UNIVERSITY   (Turkey)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e Government Hospital   (Turkey)

^f TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLONIDINE; DESMOPRESSIN; GLUCOSE; GROWTH HORMONE; HYDROCORTISONE; LEVOTHYROXINE; MESSENGER RNA; G PROTEIN COUPLED RECEPTOR; GPR161 PROTEIN, HUMAN;

ADOLESCENT; ALOPECIA; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DIABETES INSIPIDUS; FEMALE; FOLLOW UP; GENE; GENE SEQUENCE; GLI2 GENE; GLI3 GENE; GLUCOSE BLOOD LEVEL; GPR161 GENE; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HESX1 GENE; HOLOPROSENCEPHALY; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HYPOGLYCEMIA; HYPOPHYSIS DISEASE; HYPOTHYROIDISM; LHX4 GENE; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NEUROHYPOPHYSIS DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OTX2 GENE; PITUITARY STALK INTERRUPTION SYNDROME; PRESCHOOL CHILD; PROKR2 GENE; PTOSIS; SCREENING TEST; SELLA TURCICA; SHH GENE; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SOX3 GENE; SYNDACTYLY; WHOLE EXOME SEQUENCING; ABNORMALITIES; EXOME; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HYPOPHYSIS; HYPOPITUITARISM; MUTATION;

ADOLESCENT; CHILD, PRESCHOOL; EXOME; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYPOPITUITARISM; MUTATION; PITUITARY GLAND; RECEPTORS, G-PROTEIN-COUPLED;

EID: 84920602311     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1984     Document Type: Article

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