Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

American Journal of Medical Genetics, Part A

Volumn 146, Issue 17, 2008, Pages 2221-2226

  Bugiani, Marianna ^a   Gyftodimou, Yolanda ^b   Tsimpouka, Paraskevi ^b   Lamantea, Eleonora ^a   Katzaki, Eleni ^c   D'Adamo, Pio ^d   Nakou, Sheena ^b   Georgoudi, Nelli ^b   Grigoriadou, Maria ^b   Tsina, Efthymia ^e   Kabolis, Nikolaos ^e   Milani, Donatella ^f   Pandelia, Efthimia ^b   Kokotas, Haris ^b   Gasparini, Paolo ^d   Giannoulia Karantana, Aglaia ^g   Renieri, Alessandra ^c   Zeviani, Massimo ^a   Petersen, Michael B ^b,e  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Institute of Child Health   (Greece)

^c UNIVERSITY OF SIENA   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

^e AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^f FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^g UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Autosomal recessive inheritance; Chorioretinal dystrophy; Founder effect; Homozygosity; Microcephaly; Myopia; Narrow hands and feet; Short stature; Slender limbs; Tapered fingers

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; COH1 GENE; COHEN SYNDROME; EXON; FACE MALFORMATION; FEMALE; FOUNDER EFFECT; GENE; GENE DELETION; GENE MUTATION; GENE STRUCTURE; GREECE; HOMOZYGOSITY; HUMAN; KYPHOSIS; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUTATIONAL ANALYSIS; MYOPIA; OBESITY; PATHOGENESIS; PEDIGREE; PHENOTYPE; PIGEON THORAX; POPULATION GENETICS; PRIORITY JOURNAL; RETINA DYSTROPHY; SCHOOL CHILD; SCOLIOSIS; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; COHORT STUDIES; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FACE; FEMALE; GENE DELETION; GEOGRAPHY; GREECE; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; MIDDLE AGED; MYOPIA; PEDIGREE; SYNDROME; VESICULAR TRANSPORT PROTEINS;

EID: 51449102096     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32239     Document Type: Article

References (14)

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