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5. ADULT syndrome allelic to limb mammary syndrome (LMS)? Propping P; Friedl W; Wienker TF; Uhlhaas S; Zerres K Am J Med Genet; 2000 Jan; 90(2):179-82. PubMed ID: 10607963 [TBL] [Abstract][Full Text] [Related]
6. EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Maclean K; Holme SA; Gilmour E; Taylor M; Scheffer H; Graf N; Smith GH; Onikul E; van Bokhoven H; Moss C; Adès LC Am J Med Genet A; 2007 May; 143A(10):1114-9. PubMed ID: 17431922 [TBL] [Abstract][Full Text] [Related]
7. Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome. Bialer MG; Penchaszadeh VB; Kahn E; Libes R; Krigsman G; Lesser ML Am J Med Genet; 1987 Nov; 28(3):723-31. PubMed ID: 3322011 [TBL] [Abstract][Full Text] [Related]
8. ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation. de Almeida HL; van Steensel M; Rocha A; Caspary P; Meijer R Int J Dermatol; 2019 Mar; 58(3):e72-e75. PubMed ID: 30656674 [No Abstract] [Full Text] [Related]
10. P63 gene mutations and human developmental syndromes. Brunner HG; Hamel BC; Bokhoven Hv Hv Am J Med Genet; 2002 Oct; 112(3):284-90. PubMed ID: 12357472 [TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly. Aerden M; Bauters M; Van Den Bogaert K; Vermeesch JR; Holvoet M; Plasschaert F; Devriendt K Eur J Med Genet; 2020 Nov; 63(11):104009. PubMed ID: 32758660 [TBL] [Abstract][Full Text] [Related]
12. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. Prontera P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E Am J Med Genet A; 2011 Nov; 155A(11):2746-9. PubMed ID: 21990121 [TBL] [Abstract][Full Text] [Related]
13. 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. Dimitrov B; Balikova I; de Ravel T; Van Esch H; De Smedt M; Baten E; Vermeesch JR; Bradinova I; Simeonov E; Devriendt K; Fryns JP; Debeer P J Med Genet; 2011 Feb; 48(2):98-104. PubMed ID: 21068127 [TBL] [Abstract][Full Text] [Related]
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15. Further phenotypic and genetic variation in ADULT syndrome. Reisler TT; Patton MA; Meagher PP Am J Med Genet A; 2006 Nov; 140(22):2495-500. PubMed ID: 17041931 [TBL] [Abstract][Full Text] [Related]
16. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Viot-Szoboszlai G; Amiel J; Doz F; Prieur M; Couturier J; Zucker JN; Henry I; Munnich A; Vekemans M; Lyonnet S Clin Genet; 1998 Apr; 53(4):278-80. PubMed ID: 9650765 [TBL] [Abstract][Full Text] [Related]
17. Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation. Tanpaiboon P; Sittiwangkul R; Dejkhamron P; Srikummool M; Sripathomsawat W; Kantaputra P Am J Med Genet A; 2009 Aug; 149A(8):1749-53. PubMed ID: 19606477 [TBL] [Abstract][Full Text] [Related]
19. p63-associated disorders. Rinne T; Brunner HG; van Bokhoven H Cell Cycle; 2007 Feb; 6(3):262-8. PubMed ID: 17224651 [TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects. Lee S; Chae H; Park IY; Kim M; Kim Y; Shin JC; Lee J; Son J Gene; 2012 Feb; 494(1):105-8. PubMed ID: 22178765 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]