Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3143-3147

  Narumi, Yoko ^a   Kosho, Tomoki ^a   Tsuruta, Goro ^a   Shiohara, Masaaki ^a   Shimazaki, Ei ^b   Mori, Tetsuo ^b   Shimizu, Ayako ^a   Igawa, Yasuhiko ^c   Nishizawa, Shuji ^d   Takagi, Kimiyo ^d   Kawamura, Rie ^a   Wakui, Keiko ^a   Fukushima, Yoshimitsu ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Nagano Hospital   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d NAGANO CHILDREN'S HOSPITAL   (Japan)

Author keywords

Genital abnormality; GLI3; Hydrometrocolpos; Micropenis; Pallister Hall syndrome; Sonic hedgehog signaling

Indexed keywords

ANTIBIOTIC AGENT; CORTICOTROPIN; GLUCOCORTICOID; GROWTH HORMONE; HYDROCORTISONE; LUTEINIZING HORMONE; MINERALOCORTICOID; NITRIC OXIDE; SONIC HEDGEHOG PROTEIN; TESTOSTERONE; THYROID HORMONE; THYROTROPIN;

ANORECTAL DISEASE; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; CRYPTORCHISM; CYSTOGRAPHY; DISEASE ASSOCIATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FEMALE; GROWTH HORMONE DEFICIENCY; GYNECOLOGIC DISEASE; HUMAN; HYDROMETROCOLPOS; HYPOPITUITARISM; HYPOPLASTIC SCROTUM; INFANT; MALE; MICROPENIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLISTER HALL SYNDROME; PERITONITIS; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCHOOL CHILD; SIGNAL TRANSDUCTION; TREATMENT RESPONSE; UROGENITAL TRACT DISEASE; VAGINA ATRESIA; VAGINA RECONSTRUCTION;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; HETEROZYGOTE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; NERVE TISSUE PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PALLISTER-HALL SYNDROME; POLYMERASE CHAIN REACTION; UROGENITAL ABNORMALITIES;

ERINACEIDAE;

EID: 78649645166     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33720     Document Type: Article

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