Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations von Ahmed, Hoda A., El-Kamah, Ghada Y., Rabie, Eman, Mostafa, Mostafa, Abouzaid, Maha R., Hassib, Nehal F., Mehrez, Mennat, Abdel-Kader, Mohamed A., Mohsen, Yasmine H., Zada, Suher K., Amr, Khalda S., Sayed, Inas S. M.

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome von Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

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Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families von El-Kamah, Ghada Y, Mehrez, Mennat I, Taher, Mohamed B, El-Bassyouni, Hala T, Gaber, Khaled R, Amr, Khalda S

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Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease von Sayed Amr, Khalda, El-Bassyouni, Hala T., Abdel Hady, Sawsan, Mostafa, Mostafa I., Mehrez, Mennat I., Coviello, Domenico, El-Kamah, Ghada Y.

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Lipoid proteinosis: A clinical and molecular study in Egyptian patients von Afifi, Hanan H., Amr, Khalda S., Tosson, Angie M.S., Hassan, Tarak A., Mehrez, Mennat I., El-Kamah, Ghada Y.

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Lenz–Majewski syndrome in a patient from Egypt von Afifi, Hanan H., Abdel‐Hamid, Mohamed S., Mehrez, Mennat I., El‐Kamah, Ghada, Abdel‐Salam, Ghada M. H.

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Hutchinson-gilford progeria versus mandibuloacral dysplasia von Mehrez, Mennat Allah I, Mostafa, Mostafa Ibrahim

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2 von El‐Ruby, Mona, El‐Din Fayez, Alaa, El‐Dessouky, Sara H., Aglan, Mona S., Mazen, Inas, Ismail, Nora, Afifi, Hanan H., Eid, Maha M., Mostafa, Mostafa I., Mehrez, Mennat I., Khalil, Yasmin, Zaki, Maha S., Gaber, Khaled R., Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H.

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Expanding the mutation and clinical spectrum of Roberts syndrome von Afifi, Hanan H., Abdel-Salam, Ghada M.H., Eid, Maha M., Tosson, Angie M.S., Shousha, Wafaa Gh, Abdel Azeem, Amira A., Farag, Mona K., Mehrez, Mennat I., Gaber, Khaled R.

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Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations von Aglan, Mona, Amr, Khalda, Ismail, Samira, Ashour, Adel, Otaify, Ghada A., Mehrez, Mennat Allah I., Aboul-Ezz, Eman H. A., El-Ruby, Mona, Mazen, Inas, Abdel-Hamid, Mohamed S., Temtamy, Samia A.

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Generalised versus Regional Odontodysplasia : Diagnosis, Transitional Management, and Long-Term Followup—A Report of 2 Cases von Ibrahim Mostafa, Mostafa, Samir Taha, Nehad, Ismail Mehrez, Mennat Allah

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Outlining the Clinical Profile of ITCIRG1 14 Variants/I including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families von El-Kamah, Ghada Y, Mehrez, Mennat I, Taher, Mohamed B, El-Bassyouni, Hala T, Gaber, Khaled R, Amr, Khalda S

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Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling von Hassib, Nehal F., Mehrez, Mennat, Mostafa, Mostafa I., Abdel-Hamid, Mohamed S.

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A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara’s disease) von Hassib, Nehal F., Mehrez, Mennat, Abouzaid, Maha R., Mostafa, Mostafa I., Elhossini, Rasha M., Abdel-Hamid, Mohamed S.

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Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption von El-Moataz Bellah Ahmed, Nermeen, Mostafa, Mostafa I., Abdel-Hamid, Mohamed S., Mehrez, Mennat

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Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium von Caparrós-Martín, José A, De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A, Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E, Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A, Mill, Pleasantine, Lapunzina, Pablo, Ruiz-Perez, Victor L

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Craniofacial anomalies and three-dimensional imaging modalities with reference to the Egyptian experience von Mehrez, Mennat, ElBadry, Tarek, Nemat, Amany, El Batran, Mona, Soliman, Nadia, AboulEzz, Eman

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome von Palencia-Campos, Adrian, Aoto, Phillip C, Machal, Erik M.F, Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Hul, Wim Van, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S, Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F, Schneider, Amy L, Scheffer, Ingrid E, Kibaek, Maria, Kristiansen, Britta S, Issa, Mahmoud Y, Mehrez, Mennat, Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skalhegg, Bjorn Steen, Otaify, Ghada A, Temtamy, Samia, Aglan, Mona, Jonch, Aia E, De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valerie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W, Taylor, Susan S, Ruiz-Perez, Victor L

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Vocal Tract Abnormalities in Patients with Two Genodermatoses: Lipoid Proteinosis and Neurofibromatosis Type 1 von ElDessouky, Hossam, Osman, Dalia, Gadelhak, Mohamed, Mehrez, Mennat, Afifi, Hanan, El Kammah, Ghada, Sheikhany, Aya

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Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification von Mehrez, Mennat, Hassib, Nehal, Sayed, Inas, Aboul-Ezz, Eman, Ramzy, Magda, El-Hadidi, Saher, Abdel-Kader, Mohmed, Bellah, Nermeen, Aglan, Mona, Ismail, Samira, Hosny, Laila, Otaify, Ghada, El-Husseini, Rasha, Esmail, Asmaa, El-Desouky, Dina, Temtamy, Samia

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