A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features

American Journal of Medical Genetics, Part A

Volumn 140, Issue 11, 2006, Pages 1131-1135

  Crow, Yanick Joseph ^a   Goodship, J A ^b   Wright, C ^c   Coady, A M ^d   Conley, M E ^e   Gennery, A R ^f  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

^d HULL ROYAL INFIRMARY   (United Kingdom)

^e UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^f NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

Agammaglobulinemia; Blepharophimosis; Craniosynostosis; Dermatitis; Microcephaly

Indexed keywords

AGAMMAGLOBULINEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE ACTIVATION; BLEPHAROPHIMOSIS; CASE REPORT; CELL MATURATION; CHILD; CHROMOSOME BREAKAGE; CRANIOFACIAL SYNOSTOSIS; DERMATITIS; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; MALE; MICROCEPHALY; PRIORITY JOURNAL; SYNDROME; X LINKED AGAMMAGLOBULINEMIA;

ABNORMALITIES, MULTIPLE; AGAMMAGLOBULINEMIA; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DERMATITIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; FETAL DEATH; FINGERS; GENES, RECESSIVE; GESTATIONAL AGE; HUMANS; INFANT; MALE; MICROCEPHALY; SYNDROME; TOES;

EID: 33744816848     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31275     Document Type: Article

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