A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 153, Issue 1, 2010, Pages 46-56

  Falik Zaccai, Tzipora C ^a,b   Khayat, Morad ^a   Luder, Anthony ^b,c   Frenkel, Pnina ^a   Magen, Daniella ^b,d,e   Brik, Riva ^b,d,e   Gershoni Baruch, Ruth ^b,d,e   Mandel, Hanna ^b,d,e  

^a WESTERN GALILEE HOSPITAL   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c Rebecca Sieff Government Hospital   (Israel)

^d RAMBAM MEDICAL CENTER   (Israel)

^e MEYER CHILDREN S HOSPITAL   (Israel)

Author keywords

Developmental delay; Founder mutation; Novel mutation; PEPD gene; Prolidase deficiency

Indexed keywords

ANTIHYPERTENSIVE AGENT; AZATHIOPRINE; CYCLOPHOSPHAMIDE; DNA; IMMUNOGLOBULIN; METHYLPREDNISOLONE; PREDNISONE; PROLINE DIPEPTIDASE; STEROID;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DEVELOPMENTAL DISORDER; DNA SEQUENCE; DRUG MEGADOSE; DRUG WITHDRAWAL; ENZYME ACTIVITY; ENZYME DEFICIENCY; FACE DYSMORPHIA; FEMALE; GENE LOCUS; GENETIC COUNSELING; HEMODIALYSIS; HOMOZYGOSITY; HUMAN; HYPERTENSION; ISRAEL; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MISSENSE MUTATION; MOSLEM; MUTATIONAL ANALYSIS; PEDIGREE; PHENOTYPIC VARIATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROLINE DIPEPTIDASE DEFICIENCY; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLENOMEGALY; SYSTEMIC LUPUS ERYTHEMATOSUS; THROMBOCYTOPENIA; VASCULITIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; COHORT STUDIES; CYSTIC FIBROSIS; DEVELOPMENTAL DISABILITIES; DIPEPTIDASES; DNA PRIMERS; FAMILY; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PRENATAL DIAGNOSIS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 73949110964     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30945     Document Type: Article

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