Ankyloblepharon-ectodermal dysplasia-clefting syndrome: A novel p63 mutation associated with generalized neonatal erosions

Pediatric Dermatology

Volumn 28, Issue 3, 2011, Pages 313-317

  Sawardekar, Shilpa S ^a   Zaenglein, Andrea L ^b  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; ISOLEUCINE; PROTEIN P63; THREONINE;

AEC SYNDROME; AMINO ACID SUBSTITUTION; ANHIDROSIS; ANKYLOBLEPHARON; ARTICLE; BACTERIAL SKIN DISEASE; CASE REPORT; CLEFT FACE; CLEFT PALATE; CLINICAL EXAMINATION; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DRY EYE; ECTODERMAL DYSPLASIA; EPIDERMOLYSIS BULLOSA; ERYTHEMA; EXON; GASTROSTOMY; GENE MUTATION; GENERALIZED NEONATAL EROSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HYPOPIGMENTATION; INFANT; MALE; MICROGNATHIA; MUTATIONAL ANALYSIS; NAIL HYPOPLASIA; NEWBORN DISEASE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RASH; REPEAT PROCEDURE; SCALP; SEBORRHEIC DERMATITIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SKIN DISEASE; SYNDACTYLY;

BIOPSY; CLEFT LIP; CLEFT PALATE; DERMATITIS; ECTODERMAL DYSPLASIA; EYE ABNORMALITIES; EYELIDS; FACE; FACIES; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; POINT MUTATION; SCALP;

EID: 79958039235     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2010.01207.x     Document Type: Article

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