Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Human Genetics

Volumn 135, Issue 5, 2016, Pages 525-540

  Alazami, Anas M ^a   Al Qattan, Sarah M ^a   Faqeih, Eissa ^b   Alhashem, Amal ^c   Alshammari, Muneera ^a   Alzahrani, Fatema ^a   Al Dosari, Mohammed S ^a,i   Patel, Nisha ^a   Alsagheir, Afaf ^a   Binabbas, Bassam ^a   Alzaidan, Hamad ^a   Alsiddiky, Abdulmonem ^d   Alharbi, Nasser ^d   Alfadhel, Majid ^e   Kentab, Amal ^d   Daza, Riza M ^f   Kircher, Martin ^f   Shendure, Jay ^f   Hashem, Mais ^a   Alshahrani, Saif ^a   Rahbeeni, Zuhair ^a   Khalifa, Ola ^a,h   Shaheen, Ranad ^a   Alkuraya, Fowzan S ^a,g   more..

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^f UNIVERSITY OF WASHINGTON   (United States)

^g ALFAISAL UNIVERSITY   (Saudi Arabia)

^h AIN SHAMS UNIVERSITY   (Egypt)

ⁱ KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALDEHYDE DEHYDROGENASE; ALDH18A1 PROTEIN; ATP6V0D2 PROTEIN; ATP6V1E1 PROTEIN; B3GALT6 PROTEIN; B3GAT3 PROTEIN; BINDING PROTEIN; CHST14 PROTEIN; COLLAGEN; COLLAGEN TYPE 1A1; DIHYDROOROTASE; FK 506 BINDING PROTEIN; FK 506 BINDING PROTEIN 14; GORAB PROTEIN; OSTEONECTIN; PYRC1 PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZNF469 PROTEIN; GENETIC MARKER;

ARTICLE; CHILD; COHORT ANALYSIS; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; CUTIS LAXA; EHLERS DANLOS SYNDROME; FACIES; FAMILY; FEMALE; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIATION; GENOME; HOMOZYGOSITY; HUMAN; INFANT; JOINT LAXITY; KARYOTYPING; KYPHOSCOLIOSIS; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PHYSICIAN; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; AMINO ACID SEQUENCE; CONGENITAL SKIN DISEASE; EXOME; GENETIC MARKER; GENETICS; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PEDIGREE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; COHORT STUDIES; CONNECTIVE TISSUE DISEASES; EXOME; FEMALE; GENETIC HETEROGENEITY; GENETIC MARKERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; SKIN ABNORMALITIES;

EID: 84962274916     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1660-z     Document Type: Article

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