A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2838-2844

  Furtado, Larissa V ^a   Bayrak Toydemir, Pinar ^b,c   Hulinsky, Becki ^d   Damjanovich, Kristy ^c   Carey, John C ^a   Rope, Alan F ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP LABORATORIES   (United States)

^c ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^d INTERMOUNTAIN HEALTHCARE   (United States)

Author keywords

2,3 syndactyly; Cataracts; CDPX2; Collodion; Cryptorchidism; Dandy Walker malformation; EBP; Ichthyosis; Sterol biosynthesis; X linked recessive

Indexed keywords

7 DEHYDROCHOLESTEROL; 8 DEHYDROCHOLESTEROL; 8(9) CHOLESTENOL; BINDING PROTEIN; CHOLESTEROL DERIVATIVE; EMOPAMIL BINDING PROTEIN; GENOMIC DNA; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BONE RADIOGRAPHY; CARDIOVASCULAR MALFORMATION; CASE REPORT; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; DANDY WALKER SYNDROME; DYSPLASIA; FAMILY HISTORY; GENE MUTATION; HUMAN; HYDROCEPHALUS; MALE; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKELETON MALFORMATION; SKIN MANIFESTATION; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE DISORDER; X CHROMOSOME RECESSIVE INHERITANCE; X LINKED MULTIPLE CONGENITAL ANOMALY SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; INHERITANCE PATTERNS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PREGNANCY; STEROID ISOMERASES; STEROLS; SYNDROME;

EID: 78049237403     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33674     Document Type: Article

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