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American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2014, Volume 164, Issue 10, pp. 2465 - 2471
Journal Article
Pediatrics, ISSN 0031-4005, 2014, Volume 134, Issue 4, pp. e1149 - e1162
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 01/2019, Volume 36, Issue 1, pp. e58 - e59
We present a rare case of focal facial dermal dysplasia type 4 (FFDD4) in an otherwise healthy boy infant, presenting as bilateral preauricular scarlike... 
focal preauricular dermal dysplasia | focal facial dermal dysplasia | membranous aplasia cutis congenita | hair collar sign | PEDIATRICS | MUTATIONS | DERMATOLOGY | Male | Face - pathology | Humans | Infant, Newborn | Skin - pathology | Ectodermal Dysplasia - diagnosis | Hair | Dysplasia | Skin | Aplasia | Scalp | Embryos
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2009, Volume 149A, Issue 9, pp. 1980 - 2002
Journal Article
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial... 
Endocrinology & Metabolism | pathogenetic mechanisms | Noonan syndrome | genotype-phenotype correlations | diagnosis | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | RAS signaling | patient management | CBL mutation-associated syndrome | LEOPARD-SYNDROME | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | OF-FUNCTION MUTATIONS | RAS SUPERFAMILY | PHENOTYPIC SPECTRUM | SHP2 MUTATIONS | ENDOCRINOLOGY & METABOLISM | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | MYELODYSPLASTIC SYNDROMES | Loose Anagen Hair Syndrome - genetics | Costello Syndrome - diagnosis | Humans | LEOPARD Syndrome - genetics | Infant | Heart Defects, Congenital - genetics | Facies | SOS1 Protein - genetics | Failure to Thrive - diagnosis | Neurofibromatosis 1 - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Noonan Syndrome - diagnosis | Proto-Oncogene Proteins c-cbl - genetics | Failure to Thrive - genetics | Proto-Oncogene Proteins c-raf - genetics | Ectodermal Dysplasia - diagnosis | Noonan Syndrome - genetics | Loose Anagen Hair Syndrome - diagnosis | Costello Syndrome - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | LEOPARD Syndrome - diagnosis | Heart Defects, Congenital - diagnosis | Mitogen-Activated Protein Kinases - genetics | Ectodermal Dysplasia - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Proteins | Developmental biology | Protein kinases
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 9, pp. 1063 - 1070
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 07/2017, Volume 83, Issue 4, pp. 476 - 479
[1] EDDFS occurs as a result of mutation in the PKP 1 gene, and is characterized by widespread skin fragility, alopecia, nail dystrophy, palmoplantar... 
PKP1 | DERMATOLOGY | Skin Diseases - diagnosis | Skin Diseases - genetics | Humans | Ectodermal Dysplasia - diagnosis | Adult | Male | Ectodermal Dysplasia - genetics | Mutation - genetics | Proteins | Baldness | Dermatology | Cardiomyopathy | Consent | Classification | Mutation
Journal Article